A7T (p.Ala7Thr) variant of PRKAR1A (P10644)
A7T (p.Ala7Thr) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Carney complex, type 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs369210646
- ClinGen CA8729138
- cosmic curated COSV10442
- ClinVar RCV000562330
- Conflicting interpretations
- not specified; Carney complex, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 6.61
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (not specified; Carney complex, type 1; Hereditary cancer-predisp)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00041)
- 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)