R19T (p.Arg19Thr) variant of ATM (Serine-protein kinase ATM)
R19T (p.Arg19Thr) 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 0.30 / 1. The record also includes published literature and structural context.
R19T (p.Arg19Thr) variant details
- p.Arg19Thr
- rs1064793029
- ClinGen CA382519285
- ClinVar RCV000774321
- ClinVar RCV001210198
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.05
- 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)