A3V (p.Ala3Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
A3V (p.Ala3Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- TOPMed rs1364376797
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.14
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available