P18L (p.Pro18Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
P18L (p.Pro18Leu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- gnomAD 9-134642240-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.14
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available