P46R (p.Pro46Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
P46R (p.Pro46Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
P46R (p.Pro46Arg) variant details
- p.Pro46Arg
- rs759470234
- gnomAD 2-227010392-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.062
- CADD 2.56
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available