I57F (p.Ile57Phe) variant of SMARCE1 (Q969G3)
I57F (p.Ile57Phe) 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 0.80 / 1. The record also includes experimental measurements, published literature, and structural context.
I57F (p.Ile57Phe) variant details
- p.Ile57Phe
- rs2143999604
- ClinGen CA399367996
- ClinVar RCV001892853
- Ensembl rs2143999604
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.79
- MetaLR 0.81
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.89
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.227
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)