RHO p.Phe148=
c.444C>T · rs139502149 · VCV546945
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0561%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.5 | GERP -4.5 |
| Overall | ||
| CADD | 8.177 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0561%
European (non-Finnish) · 662/1,180,066 alleles
Filtering AF
0.0525%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0511%
Overall
0.0431%
695/1,614,144 alleles · ultra-rare
exomes 651/1,461,886 · genomes 44/152,258 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0561% | 1,783 |
| Remaining individualsnot grpmax-eligible | 0.0224% | 4,464 |
| African / African-American | 0.0133% | 7,494 |
| Admixed American | 0.01% | 10,002 |
| Finnishnot grpmax-eligible | 0.00312% | 32,018 |
| South Asian | 0.0011% | 91,094 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- RHO
- Protein
- p.Phe148=
- Coding
- c.444C>T
- MANE Select
- NM_000539
- dbSNP
- rs139502149
- Type
- single nucleotide variant
- Location
- chr3:129530958 (GRCh38)
- Gene constraint
- LOEUF 0.91 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.18 · 4 PDB
Similar variants
- RHO p.Phe148Leu Uncertain significance ★ ⚠ same residue
- RHO p.Phe148Ser Uncertain significance ★ ⚠ same residue
- RHO c.696+1G>C Likely pathogenic ★★ same type
- RHO c.936+1G>T Pathogenic/Likely pathogenic ★★ same type
- RHO c.937-1G>A Pathogenic ★★ same type
- RHO c.937-1G>T Pathogenic ★★ same type
- RHO c.937-2A>G Pathogenic/Likely pathogenic ★★ same type
- RHO c.937-2A>T Pathogenic/Likely pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/rho-p-phe148 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown