S35L (p.Ser35Leu) variant of SMARCA4 (P51532)
S35L (p.Ser35Leu) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S35L (p.Ser35Leu) variant details
- p.Ser35Leu
- rs563079629
- ClinGen CA9203399
- cosmic curated COSV60799
- ClinVar RCV000539954
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.47
- CADD 24.60
- PolyPhen-2 0.89
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- 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)