R13G (p.Arg13Gly) variant of PRKAR1A (P10644)
R13G (p.Arg13Gly) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- TOPMed rs1177674637
- gnomAD rs1177674637
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available