R10L (p.Arg10Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
R10L (p.Arg10Leu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD 9-134642216-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.37
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available