Q20R (p.Gln20Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q20R (p.Gln20Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- gnomAD rs1355261455
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.28
- CADD 19.10
- PolyPhen-2 0.26
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available