R13C (p.Arg13Cys) variant of ATM (Serine-protein kinase ATM)
R13C (p.Arg13Cys) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs141586345
- ClinGen CA193543
- ClinVar RCV000165494
- ClinVar RCV000230359
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.43
- MetaLR 0.26
- MetaSVM -0.78
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)