Q14K (p.Gln14Lys) variant of ATM (Serine-protein kinase ATM)
Q14K (p.Gln14Lys) 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 0.55 / 1. The record also includes population frequency data and structural context.
Q14K (p.Gln14Lys) variant details
- p.Gln14Lys
- Ensembl rs2135005331
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.95
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available