P32S (p.Pro32Ser) variant of SMARCA4 (P51532)
P32S (p.Pro32Ser) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- rs1304026031
- ClinGen CA404054162
- ClinVar RCV000817110
- ClinVar RCV001019415
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.41
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Rhabdoid tumor predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)