G24A (p.Gly24Ala) variant of SMARCE1 (Q969G3)
G24A (p.Gly24Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- rs2508613601
- ClinGen CA399369963
- ClinVar RCV003310811
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.33
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.21
- CADD 24.20
- PolyPhen-2 0.61
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.107
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)