P10S (p.Pro10Ser) variant of SMARCE1 (Q969G3)
P10S (p.Pro10Ser) 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 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs1413469817
- ClinGen CA399370975
- ClinVar RCV000704088
- gnomAD rs1413469817
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.16
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.18
- 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 -0.456
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)