P20S (p.Pro20Ser) variant of SMARCE1 (Q969G3)
P20S (p.Pro20Ser) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- rs2508613646
- ClinGen CA399370021
- ClinVar RCV002895364
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.19
- CADD 23.90
- PolyPhen-2 0.35
- SIFT 0.05
- ClinVar: Uncertain significance (Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.355
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)