H25Y (p.His25Tyr) variant of PRKAR1A (P10644)
H25Y (p.His25Tyr) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acrodysostosis 1 with or without hormone resistance; Carney complex, type 1; Her. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H25Y (p.His25Tyr) variant details
- p.His25Tyr
- rs140795787
- ClinGen CA8729152
- ClinVar RCV000818450
- ClinVar RCV001026388
- Uncertain significance
- Acrodysostosis 1 with or without hormone resistance; Carney complex, type 1; Her
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 23.50
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Acrodysostosis 1 with or without hormone resistance; Carney comp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)