I35V (p.Ile35Val) variant of PRKAR1A (P10644)
I35V (p.Ile35Val) 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; not provided; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- rs377513504
- ClinGen CA8729158
- cosmic curated COSV62236
- ClinVar RCV000323950
- Conflicting interpretations
- not specified; not provided; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Carney complex, type 1)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- 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)