R335C (p.Arg335Cys) variant of PRKAR1A (P10644)
R335C (p.Arg335Cys) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Carney complex, type 1; Albright hereditary osteodystrophy, pseudo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R335C (p.Arg335Cys) variant details
- p.Arg335Cys
- rs1555815121
- ClinGen CA400754491
- ClinVar RCV000497832
- ClinVar RCV000763414
- Likely pathogenic
- not provided; Carney complex, type 1; Albright hereditary osteodystrophy, pseudo
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (not provided; Carney complex, type 1; Albright hereditary osteod)
- EBI: Likely pathogenic (in ACRDYS1)
- UniProt: Likely pathogenic (in ACRDYS1)
- 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)