P18L (p.Pro18Leu) variant of SMARCA4 (P51532)
P18L (p.Pro18Leu) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs1060502087
- ClinGen CA16615866
- cosmic curated COSV10817
- ClinVar RCV000470492
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.44
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)