P36L (p.Pro36Leu) variant of SMARCA4 (P51532)
P36L (p.Pro36Leu) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs766176476
- ClinGen CA9203401
- ClinVar RCV000470350
- ClinVar RCV000571867
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.55
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)