V51I (p.Val51Ile) variant of SMARCE1 (Q969G3)
V51I (p.Val51Ile) 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 0.33 / 1. The record also includes experimental measurements, published literature, and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- rs1555606273
- ClinGen CA399369538
- ClinVar RCV000564205
- Ensembl rs1555606273
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.14
- MetaLR 0.10
- MetaSVM -1.05
- PolyPhen-2 0.01
- SIFT 0.22
- MutPred 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)