R32H (p.Arg32His) variant of ATM (Serine-protein kinase ATM)
R32H (p.Arg32His) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- rs368161489
- ClinGen CA298213
- cosmic curated COSV10961
- ClinVar RCV000459267
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)