S129Y (p.Ser129Tyr) variant of SMARCE1 (Q969G3)
S129Y (p.Ser129Tyr) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S129Y (p.Ser129Tyr) variant details
- p.Ser129Tyr
- rs769255223
- ClinGen CA8545250
- ClinVar RCV001218245
- ExAC rs769255223
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.71
- CADD 24.60
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)