R32G (p.Arg32Gly) variant of ATM (Serine-protein kinase ATM)
R32G (p.Arg32Gly) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- rs148061139
- ClinGen CA382519658
- ClinVar RCV002374124
- ESP rs148061139
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- EBI: Likely benign
- UniProt: Likely benign
- 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)