A18S (p.Ala18Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A18S (p.Ala18Ser) 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.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 21-45981902-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.15
- MetaLR 0.32
- MetaSVM -0.77
- CADD 4.94
- PolyPhen-2 0.00
- SIFT 0.96
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available