R59L (p.Arg59Leu) variant of COL6A3 (Collagen alpha-3(VI) chain)
R59L (p.Arg59Leu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R59L (p.Arg59Leu) variant details
- p.Arg59Leu
- ExAC rs111577719
- gnomAD rs111577719
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.70
- MetaLR 0.58
- MetaSVM 0.22
- CADD 24.40
- PolyPhen-2 0.87
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available