K61R (p.Lys61Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
K61R (p.Lys61Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K61R (p.Lys61Arg) variant details
- p.Lys61Arg
- gnomAD 2-227010344-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 8.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available