G55R (p.Gly55Arg) variant of PKD1 (Polycystin-1)
G55R (p.Gly55Arg) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- TOPMed rs1466702158
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.03
- CADD 22.10
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available