RHAG p.Phe71fs
c.212del · VCV3381008
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.9 | GERP -0.84, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- RHAG
- Protein
- p.Phe71fs
- Coding
- c.212del
- MANE Select
- NM_000324
- Type
- Deletion
- Location
- chr6:49619308 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.44 · 8 PDB
- Residue 71
- an α-helix
Similar variants
- RHAG p.Phe71= Likely benign ★ same residue
- RHAG p.Leu385fs Conflicting classifications of pathogenicity ★ same type
- RHAG c.945+76del Benign ★ same type
- RHAG p.Ala363fs 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/rhag-p-phe71fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown