R32C (p.Arg32Cys) variant of ATM (Serine-protein kinase ATM)
R32C (p.Arg32Cys) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs148061139
- ClinGen CA169733
- cosmic curated COSV53740
- ClinVar RCV000132385
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.46
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-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)