A26E (p.Ala26Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
A26E (p.Ala26Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- TOPMed rs1361533883
- gnomAD rs1361533883
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- CADD 9.81
- PolyPhen-2 0.04
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available