K24E (p.Lys24Glu) variant of ATM (Serine-protein kinase ATM)
K24E (p.Lys24Glu) 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 0.37 / 1. The record also includes published literature and structural context.
K24E (p.Lys24Glu) variant details
- p.Lys24Glu
- rs1469464426
- ClinGen CA382519377
- ClinVar RCV000773947
- gnomAD rs1469464426
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.64
- MetaLR 0.19
- MetaSVM -0.76
- PolyPhen-2 0.39
- SIFT 0.01
- EVE 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)