P12R (p.Pro12Arg) variant of PKD2 (Polycystin-2)
P12R (p.Pro12Arg) in PKD2 (Polycystin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- TOPMed rs1459980217
- gnomAD rs1459980217
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.13
- CADD 22.90
- PolyPhen-2 0.43
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available