P18A (p.Pro18Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
P18A (p.Pro18Ala) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- gnomAD 9-134642239-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.21
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available