K71R (p.Lys71Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
K71R (p.Lys71Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K71R (p.Lys71Arg) variant details
- p.Lys71Arg
- ExAC rs759923819
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.40
- CADD 21.80
- PolyPhen-2 0.13
- SIFT 0.14
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available