P7A (p.Pro7Ala) variant of SMARCA4 (P51532)
P7A (p.Pro7Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- rs762625346
- ClinGen CA404053882
- ClinVar RCV003617498
- Uncertain significance
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.10
- MetaLR 0.54
- MetaSVM 0.09
- PolyPhen-2 0.61
- SIFT 0.06
- MutPred 0.25
- ClinVar: Uncertain significance (Rhabdoid tumor predisposition syndrome 2)
- 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)