R27K (p.Arg27Lys) variant of COL6A1 (Collagen alpha-1(VI) chain)
R27K (p.Arg27Lys) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- gnomAD 21-45981930-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.09
- MetaLR 0.33
- MetaSVM -0.76
- CADD 2.06
- PolyPhen-2 0.01
- SIFT 0.75
- Population evidence available
- Literature evidence available