P4A (p.Pro4Ala) variant of SMARCA4 (P51532)
P4A (p.Pro4Ala) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom. 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.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- rs2085801503
- ClinGen CA404053854
- cosmic curated COSV10967
- ClinVar RCV001324299
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.58
- CADD 22.30
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Uncertain significance (Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-pred)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)