L19M (p.Leu19Met) variant of COL5A1 (Collagen alpha-1(V) chain)
L19M (p.Leu19Met) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD 9-134642242-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.26
- CADD 19.70
- PolyPhen-2 0.67
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available