C12R (p.Cys12Arg) variant of ATM (Serine-protein kinase ATM)
C12R (p.Cys12Arg) 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.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- rs1060501597
- ClinGen CA16613042
- ClinVar RCV000476227
- Ensembl rs1060501597
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.97
- MetaLR 0.40
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- 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)