V44G (p.Val44Gly) variant of COL6A3 (Collagen alpha-3(VI) chain)
V44G (p.Val44Gly) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
V44G (p.Val44Gly) variant details
- p.Val44Gly
- ExAC rs757493766
- gnomAD rs757493766
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.88
- MetaLR 0.72
- MetaSVM 0.68
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available