D42E (p.Asp42Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
D42E (p.Asp42Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- gnomAD 2-227238006-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.30
- CADD 0.00
- PolyPhen-2 0.34
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available