C11R (p.Cys11Arg) variant of ATM (Serine-protein kinase ATM)
C11R (p.Cys11Arg) 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 0.53 / 1. The record also includes published literature and structural context.
C11R (p.Cys11Arg) variant details
- p.Cys11Arg
- rs2135004988
- ClinGen CA382519067
- ClinVar RCV002322970
- ClinVar RCV005096193
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.90
- MetaLR 0.39
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- 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)