PHEX p.Pro310fs
c.924_927dup · rs1930171625 · VCV939493
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4 | GERP -0.66, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- PHEX
- Protein
- p.Pro310fs
- Coding
- c.924_927dup
- MANE Select
- NM_000444
- dbSNP
- rs1930171625
- Type
- Duplication
- Location
- chrX:22097027 (GRCh38)
- Structure
- AlphaFold pLDDT 94.58
- Residue 310
- the peptidase m13 domain
Similar variants
- PHEX p.Pro310= Likely benign ★ same residue
- PHEX p.Arg664Ter Pathogenic ★★ same type
- PHEX p.Asn620delinsAspTer Pathogenic ★★ same type
- PHEX p.Asn647delinsArgTer Pathogenic ★★ same type
- PHEX p.Asp152fs Pathogenic ★★ same type
- PHEX p.Glu437fs Pathogenic ★★ same type
- PHEX p.Glu669fs Pathogenic ★★ same type
- PHEX p.His329fs 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/phex-p-pro310fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown