Y21C (p.Tyr21Cys) variant of PRKAR1A (P10644)
Y21C (p.Tyr21Cys) 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; not provided; Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y21C (p.Tyr21Cys) variant details
- p.Tyr21Cys
- rs2143150295
- ClinGen CA400751886
- ClinVar RCV001763846
- ClinVar RCV003626685
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Carney co)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)