P45S (p.Pro45Ser) variant of SMARCE1 (Q969G3)
P45S (p.Pro45Ser) 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; Hereditary cancer-predisposing syndrome. 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.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- rs1597749741
- ClinGen CA399369629
- NCI-TCGA Cosmic COSV6217
- cosmic curated COSV62177
- Uncertain significance
- Familial meningioma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.27
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.89
- CADD 22.00
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Familial meningioma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.526
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)