L31F (p.Leu31Phe) variant of PRKAR1A (P10644)
L31F (p.Leu31Phe) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- rs2143151261
- ClinGen CA400751948
- ClinVar RCV001938562
- Ensembl rs2143151261
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 23.90
- PolyPhen-2 0.65
- SIFT 0.25
- ClinVar: Uncertain significance (Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- 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)