M1T (p.Met1Thr) variant of ATM (Serine-protein kinase ATM)
M1T (p.Met1Thr) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs786203606
- ClinGen CA197209
- ClinVar RCV000166992
- ClinVar RCV000168377
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- MetaLR 0.15
- MetaSVM -0.80
- PolyPhen-2 0.87
- SIFT 0.00
- MutPred 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)