L25Q (p.Leu25Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
L25Q (p.Leu25Gln) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L25Q (p.Leu25Gln) variant details
- p.Leu25Gln
- gnomAD 9-134642261-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.63
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available