P22H (p.Pro22His) variant of SMARCA4 (P51532)
P22H (p.Pro22His) 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; Intellectual disability, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
P22H (p.Pro22His) variant details
- p.Pro22His
- rs1227659334
- ClinGen CA404054047
- NCI-TCGA Cosmic COSV6080
- ClinVar RCV000646848
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.60
- MetaLR 0.71
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Intellectual disability)
- 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)