P45L (p.Pro45Leu) variant of SMARCE1 (Q969G3)
P45L (p.Pro45Leu) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs1249552995
- ClinGen CA399369626
- cosmic curated COSV10526
- ClinVar RCV001210558
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.526
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)