Q32R (p.Gln32Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q32R (p.Gln32Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- gnomAD 21-45981945-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.41
- MetaLR 0.78
- MetaSVM 0.49
- CADD 23.10
- PolyPhen-2 0.79
- SIFT 0.55
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available