A4G (p.Ala4Gly) variant of FH (P07954)
A4G (p.Ala4Gly) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- rs1252151546
- ClinGen CA345443093
- ClinVar RCV003687739
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.34
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available