K24N (p.Lys24Asn) variant of ATM (Serine-protein kinase ATM)
K24N (p.Lys24Asn) 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 0.37 / 1. The record also includes published literature and structural context.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- rs2135006985
- cosmic curated COSV10879
- ClinGen CA382519392
- ClinVar RCV002819736
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.89
- MetaLR 0.19
- MetaSVM -0.74
- PolyPhen-2 0.82
- SIFT 0.01
- EVE 0.46
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)