H69R (p.His69Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
H69R (p.His69Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H69R (p.His69Arg) variant details
- p.His69Arg
- gnomAD rs1180790040
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.60
- SIFT 0.36
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available