V51A (p.Val51Ala) variant of SMARCE1 (Q969G3)
V51A (p.Val51Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V51A (p.Val51Ala) variant details
- p.Val51Ala
- rs1597749716
- ClinGen CA399369528
- ClinVar RCV001012030
- Ensembl rs1597749716
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.241
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)