R5L (p.Arg5Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
R5L (p.Arg5Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 21-45981864-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.14
- MetaLR 0.41
- MetaSVM -0.68
- CADD 7.33
- PolyPhen-2 0.01
- SIFT 0.64
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available