A26T (p.Ala26Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
A26T (p.Ala26Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- gnomAD rs1298369205
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.20
- CADD 9.35
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available