P13L (p.Pro13Leu) variant of SMARCE1 (Q969G3)
P13L (p.Pro13Leu) 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 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs2508617529
- ClinGen CA399370934
- ClinVar RCV003525741
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- 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 -0.455
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)