P36A (p.Pro36Ala) variant of PKD1 (Polycystin-1)
P36A (p.Pro36Ala) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- TOPMed rs2092941107
- gnomAD rs2092941107
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.06
- CADD 14.40
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available