R32L (p.Arg32Leu) variant of ATM (Serine-protein kinase ATM)
R32L (p.Arg32Leu) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- rs368161489
- ClinGen CA6264515
- cosmic curated COSV53745
- ClinVar RCV000628022
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)