P30S (p.Pro30Ser) variant of SMARCA4 (P51532)
P30S (p.Pro30Ser) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 16; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs1599928968
- ClinGen CA404054128
- cosmic curated COSV10441
- ClinVar RCV000804536
- Uncertain significance
- Intellectual disability, autosomal dominant 16; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.27
- MetaLR 0.74
- MetaSVM 0.59
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.21
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 16; Hereditary cance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)