I10T (p.Ile10Thr) variant of ATM (Serine-protein kinase ATM)
I10T (p.Ile10Thr) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I10T (p.Ile10Thr) variant details
- p.Ile10Thr
- rs2135004898
- ClinGen CA382519052
- ClinVar RCV002033267
- ClinVar RCV003299035
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.41
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)