K34E (p.Lys34Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
K34E (p.Lys34Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- gnomAD 2-227237980-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.20
- CADD 13.80
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available