K31T (p.Lys31Thr) variant of ATM (Serine-protein kinase ATM)
K31T (p.Lys31Thr) in ATM (Serine-protein kinase ATM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K31T (p.Lys31Thr) variant details
- p.Lys31Thr
- Ensembl rs2135011309
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available