P12L (p.Pro12Leu) variant of SMARCA4 (P51532)
P12L (p.Pro12Leu) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs1201812441
- ClinGen CA404053937
- NCI-TCGA Cosmic COSV6080
- cosmic curated COSV60801
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.50
- AlphaMissense 0.40
- MetaLR 0.75
- MetaSVM 0.64
- CADD 26.80
- 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 4.8e-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)