K24M (p.Lys24Met) variant of ATM (Serine-protein kinase ATM)
K24M (p.Lys24Met) 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 0.45 / 1. The record also includes published literature and structural context.
K24M (p.Lys24Met) variant details
- p.Lys24Met
- rs1060501710
- ClinGen CA16613291
- ClinVar RCV000466203
- ClinVar RCV000580677
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.67
- MetaLR 0.24
- MetaSVM -0.54
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.67
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)