V51G (p.Val51Gly) variant of SMARCE1 (Q969G3)
V51G (p.Val51Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V51G (p.Val51Gly) variant details
- p.Val51Gly
- rs1597749716
- ClinGen CA399369526
- ClinVar RCV001233241
- Ensembl rs1597749716
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.241
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)