V51F (p.Val51Phe) variant of SMARCE1 (Q969G3)
V51F (p.Val51Phe) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V51F (p.Val51Phe) variant details
- p.Val51Phe
- rs1555606273
- ClinGen CA399369535
- ClinVar RCV003463564
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.20
- AlphaMissense 0.14
- MetaLR 0.10
- MetaSVM -1.05
- CADD 23.40
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.241
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)