M47V (p.Met47Val) variant of PRKAR1A (P10644)
M47V (p.Met47Val) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M47V (p.Met47Val) variant details
- p.Met47Val
- rs548529083
- ClinGen CA293327657
- ClinVar RCV001011385
- ClinVar RCV001049581
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.15
- MetaLR 0.17
- MetaSVM -0.90
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Carney co)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)