A12G (p.Ala12Gly) variant of PRKAR1A (P10644)
A12G (p.Ala12Gly) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Carney complex, type 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- rs1292133703
- ClinGen CA400751830
- ClinVar RCV000818013
- ClinVar RCV002285417
- Uncertain significance
- not provided; Carney complex, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Carney complex, type 1; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Carney Complex. (PMID 20301463)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)