K44R (p.Lys44Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
K44R (p.Lys44Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K44R (p.Lys44Arg) variant details
- p.Lys44Arg
- gnomAD X-108539795-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.42
- CADD 23.30
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available