M1L (p.Met1Leu) variant of SMARCB1 (Q12824)
M1L (p.Met1Leu) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs367768260
- ClinGen CA410930336
- ClinVar RCV003548011
- ClinVar RCV004950398
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.72
- MetaSVM 0.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.0875
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)