V41E (p.Val41Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
V41E (p.Val41Glu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
V41E (p.Val41Glu) variant details
- p.Val41Glu
- TOPMed rs1407806712
- gnomAD rs1407806712
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available