A26V (p.Ala26Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
A26V (p.Ala26Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- TOPMed rs1361533883
- gnomAD rs1361533883
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.09
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available