R19G (p.Arg19Gly) variant of ATM (Serine-protein kinase ATM)
R19G (p.Arg19Gly) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs1565344118
- ClinGen CA382519277
- ClinVar RCV000709162
- ClinVar RCV002343582
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.33
- MetaLR 0.24
- MetaSVM -0.45
- PolyPhen-2 0.56
- SIFT 0.01
- EVE 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)