P9Q (p.Pro9Gln) variant of COL4A3 (Collagen alpha-3(IV) chain)
P9Q (p.Pro9Gln) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD 2-227164752-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.15
- CADD 9.15
- PolyPhen-2 0.04
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available