N26T (p.Asn26Thr) variant of PRKAR1A (P10644)
N26T (p.Asn26Thr) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney complex, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
N26T (p.Asn26Thr) variant details
- p.Asn26Thr
- rs2143150787
- ClinGen CA400751918
- cosmic curated COSV10067
- ClinVar RCV001370397
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.35
- MetaLR 0.55
- MetaSVM 0.03
- PolyPhen-2 0.93
- SIFT 0.02
- MutPred 0.57
- ClinVar: Uncertain significance (Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)