K24* (p.Lys24Ter) variant of ATM (Serine-protein kinase ATM)
K24* (p.Lys24Ter) in ATM (Serine-protein kinase ATM) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K24* (p.Lys24Ter) variant details
- p.Lys24Ter
- gnomAD rs1469464426
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.64
- MetaLR 0.19
- MetaSVM -0.76
- CADD 47.00
- PolyPhen-2 0.39
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available