R13G (p.Arg13Gly) variant of ATM (Serine-protein kinase ATM)
R13G (p.Arg13Gly) 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 0.42 / 1. The record also includes published literature and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- rs141586345
- ClinGen CA382519101
- ClinVar RCV001021180
- ClinVar RCV001360912
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.43
- MetaLR 0.26
- MetaSVM -0.78
- PolyPhen-2 0.77
- SIFT 0.45
- EVE 0.29
- 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)