P46H (p.Pro46His) variant of COL4A4 (Collagen alpha-4(IV) chain)
P46H (p.Pro46His) 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.
P46H (p.Pro46His) variant details
- p.Pro46His
- rs759470234
- gnomAD 2-227010392-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0575
- CADD 2.07
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available