L13I (p.Leu13Ile) variant of COL5A1 (Collagen alpha-1(V) chain)
L13I (p.Leu13Ile) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L13I (p.Leu13Ile) variant details
- p.Leu13Ile
- gnomAD 9-134642224-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.21
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available