L26Q (p.Leu26Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
L26Q (p.Leu26Gln) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L26Q (p.Leu26Gln) variant details
- p.Leu26Gln
- gnomAD 9-134642264-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.57
- CADD 23.00
- PolyPhen-2 0.14
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available