A138T (p.Ala138Thr) variant of SMARCE1 (Q969G3)
A138T (p.Ala138Thr) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial meningioma; Coffin-Siris syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A138T (p.Ala138Thr) variant details
- p.Ala138Thr
- rs771308672
- ClinGen CA8545247
- ClinVar RCV000570816
- ClinVar RCV000688644
- Conflicting interpretations
- not provided; Familial meningioma; Coffin-Siris syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.25
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial meningioma; Coffin-Siris syndrome 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- 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)