R13H (p.Arg13His) variant of ATM (Serine-protein kinase ATM)
R13H (p.Arg13His) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs778201041
- ClinGen CA334221
- cosmic curated COSV53729
- ClinVar RCV000168074
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.87
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)