L13R (p.Leu13Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
L13R (p.Leu13Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD rs1831313975
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.22
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available