A18T (p.Ala18Thr) variant of COL6A1 (Collagen alpha-1(VI) chain)
A18T (p.Ala18Thr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 21-45981902-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.14
- MetaLR 0.37
- MetaSVM -0.73
- CADD 6.70
- PolyPhen-2 0.00
- SIFT 0.97
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available