D29A (p.Asp29Ala) variant of COL6A2 (Collagen alpha-2(VI) chain)
D29A (p.Asp29Ala) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. 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.
D29A (p.Asp29Ala) variant details
- p.Asp29Ala
- ExAC rs772646535
- TOPMed rs772646535
- gnomAD rs772646535
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.20
- CADD 0.02
- PolyPhen-2 0.01
- SIFT 0.74
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available