L23P (p.Leu23Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
L23P (p.Leu23Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- gnomAD 9-134642255-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.65
- CADD 22.30
- PolyPhen-2 0.77
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available