P12S (p.Pro12Ser) variant of SMARCA4 (P51532)
P12S (p.Pro12Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs2145720953
- ClinGen CA404053932
- NCI-TCGA Cosmic COSV6079
- NCI-TCGA Cosmic COSV6080
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM 0.35
- PolyPhen-2 0.99
- SIFT 0.15
- MutPred 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)