G4D (p.Gly4Asp) variant of PRKAR1A (P10644)
G4D (p.Gly4Asp) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G4D (p.Gly4Asp) variant details
- p.Gly4Asp
- cosmic curated COSV62236
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Carney complex, type 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available