A152V (p.Ala152Val) variant of SMARCE1 (Q969G3)
A152V (p.Ala152Val) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial meningioma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A152V (p.Ala152Val) variant details
- p.Ala152Val
- rs781231331
- ClinGen CA8545239
- ClinVar RCV001022694
- ClinVar RCV001340069
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.24
- CADD 25.20
- PolyPhen-2 0.57
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-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)