P137Q (p.Pro137Gln) variant of PKD1 (Polycystin-1)
P137Q (p.Pro137Gln) in PKD1 (Polycystin-1) 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 0.40 / 1. The record also includes population frequency data and structural context.
P137Q (p.Pro137Gln) variant details
- p.Pro137Gln
- 1000Genomes rs531501851
- ExAC rs531501851
- TOPMed rs531501851
- gnomAD rs531501851
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.38
- MetaLR 0.71
- MetaSVM -0.00
- CADD 18.50
- PolyPhen-2 0.30
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available