L27Q (p.Leu27Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
L27Q (p.Leu27Gln) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L27Q (p.Leu27Gln) variant details
- p.Leu27Gln
- gnomAD 9-134642267-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.49
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available