T56M (p.Thr56Met) variant of CDKL5 (Cyclin-dependent kinase-like 5)
T56M (p.Thr56Met) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- rs774865696
- NCI-TCGA Cosmic COSV6611
- cosmic curated COSV66110
- ExAC rs774865696
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- MetaLR 0.47
- MetaSVM -0.04
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available