A18V (p.Ala18Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
A18V (p.Ala18Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- TOPMed rs1394319780
- gnomAD rs1394319780
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.15
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available