L20Q (p.Leu20Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
L20Q (p.Leu20Gln) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L20Q (p.Leu20Gln) variant details
- p.Leu20Gln
- gnomAD 9-134642246-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.46
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available