K109R (p.Lys109Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
K109R (p.Lys109Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K109R (p.Lys109Arg) variant details
- p.Lys109Arg
- ExAC rs750519151
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.34
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available