R10K (p.Arg10Lys) variant of COL4A4 (Collagen alpha-4(IV) chain)
R10K (p.Arg10Lys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R10K (p.Arg10Lys) variant details
- p.Arg10Lys
- gnomAD rs1284205772
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.12
- CADD 1.15
- PolyPhen-2 0.00
- SIFT 0.90
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available