K31E (p.Lys31Glu) variant of ATM (Serine-protein kinase ATM)
K31E (p.Lys31Glu) in ATM (Serine-protein kinase ATM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- gnomAD rs1160192865
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 24.10
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available