D42G (p.Asp42Gly) variant of COL4A3 (Collagen alpha-3(IV) chain)
D42G (p.Asp42Gly) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- ExAC rs747725232
- gnomAD rs747725232
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.28
- CADD 10.50
- PolyPhen-2 0.76
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available