P9L (p.Pro9Leu) variant of SMARCE1 (Q969G3)
P9L (p.Pro9Leu) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial meningioma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs1415603265
- ClinGen CA399370978
- ClinVar RCV001921216
- ClinVar RCV002425244
- Conflicting interpretations
- Familial meningioma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.28
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial meningioma; Hereditary cancer-predisposing syndrome; no)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.658
- 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)