A81V (p.Ala81Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
A81V (p.Ala81Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- ExAC rs747022394
- TOPMed rs747022394
- gnomAD rs747022394
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.08
- CADD 6.61
- PolyPhen-2 0.07
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available