P21A (p.Pro21Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
P21A (p.Pro21Ala) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- gnomAD 9-134642248-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.22
- CADD 7.25
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available