P21H (p.Pro21His) variant of PKD2 (Polycystin-2)
P21H (p.Pro21His) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- gnomAD 4-88007795-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.12
- CADD 21.50
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 5e-05)
- Structural context available
- Literature evidence available