Q10K (p.Gln10Lys) variant of COL4A3 (Collagen alpha-3(IV) chain)
Q10K (p.Gln10Lys) 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, published literature, and structural context.
Q10K (p.Gln10Lys) variant details
- p.Gln10Lys
- gnomAD 2-227164754-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.20
- CADD 9.95
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available