L768P (p.Leu768Pro) variant of SMARCA4 (P51532)
L768P (p.Leu768Pro) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rhabdoid tumor predisposition syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L768P (p.Leu768Pro) variant details
- p.Leu768Pro
- rs769701819
- ClinVar RCV004566526
- ExAC rs769701819
- Likely pathogenic
- Rhabdoid tumor predisposition syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Rhabdoid tumor predisposition syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)