A138V (p.Ala138Val) variant of SMARCE1 (Q969G3)
A138V (p.Ala138Val) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A138V (p.Ala138Val) variant details
- p.Ala138Val
- rs747470831
- ClinGen CA8545246
- cosmic curated COSV10806
- ClinVar RCV002333120
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)