A6P (p.Ala6Pro) variant of COL6A1 (Collagen alpha-1(VI) chain)
A6P (p.Ala6Pro) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- TOPMed rs2077708924
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.30
- CADD 4.35
- PolyPhen-2 0.07
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available