M1V (p.Met1Val) variant of PRKAR1A (P10644)
M1V (p.Met1Val) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.53 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs281864779
- ClinGen CA341227
- ClinVar RCV000013505
- ClinVar RCV000523178
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- MetaLR 0.51
- MetaSVM 0.12
- PolyPhen-2 0.82
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided; Carney co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. (PMID 11115848)
- Cited in: Carney Complex. (PMID 20301463)