K25E (p.Lys25Glu) variant of ATM (Serine-protein kinase ATM)
K25E (p.Lys25Glu) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
K25E (p.Lys25Glu) variant details
- p.Lys25Glu
- rs2135010444
- ClinGen CA382519459
- ClinVar RCV002994324
- ClinVar RCV003308399
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.31
- MetaLR 0.31
- MetaSVM -0.49
- PolyPhen-2 0.76
- SIFT 0.01
- EVE 0.56
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia s)
- 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)