D42G (p.Asp42Gly) variant of COL6A2 (Collagen alpha-2(VI) chain)
D42G (p.Asp42Gly) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- gnomAD 21-46111988-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.41
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available