Q20K (p.Gln20Lys) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q20K (p.Gln20Lys) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q20K (p.Gln20Lys) variant details
- p.Gln20Lys
- gnomAD 21-45981908-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.37
- MetaLR 0.36
- MetaSVM -0.28
- CADD 16.40
- PolyPhen-2 0.19
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available