P22L (p.Pro22Leu) variant of SMARCA4 (P51532)
P22L (p.Pro22Leu) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs1227659334
- ClinGen CA404054046
- ClinVar RCV000561555
- ClinVar RCV001206995
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.47
- AlphaMissense 0.60
- MetaLR 0.71
- MetaSVM 0.49
- CADD 23.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)