M1I (p.Met1Ile) variant of SMARCA4 (P51532)
M1I (p.Met1Ile) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodevelopmental disorder; Hereditary cancer-predisposing syndrome; Rhabdoid t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2145720045
- ClinGen CA404053838
- ClinVar RCV001780029
- ClinVar RCV001885146
- Uncertain significance
- Neurodevelopmental disorder; Hereditary cancer-predisposing syndrome; Rhabdoid t
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- MetaLR 0.67
- MetaSVM 0.45
- PolyPhen-2 0.53
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Neurodevelopmental disorder; Hereditary cancer-predisposing synd)
- 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)