A26T (p.Ala26Thr) variant of SMARCA4 (P51532)
A26T (p.Ala26Thr) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs145867502
- ClinGen CA162137
- ClinVar RCV000122060
- ClinVar RCV000566087
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.27
- AlphaMissense 0.09
- MetaLR 0.51
- MetaSVM -0.17
- CADD 21.50
- PolyPhen-2 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)
- Cited in: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)