R158L (p.Arg158Leu) variant of SMARCE1 (Q969G3)
R158L (p.Arg158Leu) 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, published literature, and structural context.
R158L (p.Arg158Leu) variant details
- p.Arg158Leu
- rs757138170
- ClinGen CA399366427
- ClinVar RCV003872546
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.25
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.10
- ClinVar: Uncertain significance (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
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)