V36G (p.Val36Gly) variant of PRKAR1A (P10644)
V36G (p.Val36Gly) 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, published literature, and structural context.
V36G (p.Val36Gly) variant details
- p.Val36Gly
- rs1600462346
- ClinGen CA400751983
- ClinVar RCV001009840
- Ensembl rs1600462346
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 23.90
- PolyPhen-2 0.24
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)