P23H (p.Pro23His) variant of COL4A4 (Collagen alpha-4(IV) chain)
P23H (p.Pro23His) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- gnomAD rs1284248647
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.41
- CADD 13.30
- PolyPhen-2 0.42
- SIFT 0.55
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available