L23Q (p.Leu23Gln) variant of COL5A1 (Collagen alpha-1(V) chain)
L23Q (p.Leu23Gln) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L23Q (p.Leu23Gln) variant details
- p.Leu23Gln
- gnomAD 9-134642255-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.61
- CADD 21.90
- PolyPhen-2 0.77
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available