P35H (p.Pro35His) variant of PKD1 (Polycystin-1)
P35H (p.Pro35His) in PKD1 (Polycystin-1) 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 and structural context.
P35H (p.Pro35His) variant details
- p.Pro35His
- TOPMed rs1007755475
- gnomAD rs1007755475
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.02
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available