R2T (p.Arg2Thr) variant of COL6A1 (Collagen alpha-1(VI) chain)
R2T (p.Arg2Thr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R2T (p.Arg2Thr) variant details
- p.Arg2Thr
- gnomAD 21-45981855-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.11
- MetaLR 0.38
- MetaSVM -0.65
- CADD 13.50
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available