A26P (p.Ala26Pro) variant of SMARCA4 (P51532)
A26P (p.Ala26Pro) in SMARCA4 (P51532) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A26P (p.Ala26Pro) variant details
- p.Ala26Pro
- rs145867502
- ClinGen CA404054080
- ClinVar RCV002400593
- 1000Genomes rs145867502
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.09
- MetaLR 0.51
- MetaSVM -0.17
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)