R8K (p.Arg8Lys) variant of COL4A3 (Collagen alpha-3(IV) chain)
R8K (p.Arg8Lys) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- TOPMed rs944020939
- gnomAD rs944020939
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.30
- CADD 14.10
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available