T56T (p.Thr56Thr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
T56T (p.Thr56Thr) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T56T (p.Thr56Thr) variant details
- p.Thr56Thr
- rs759058148
- gnomAD X-18575376-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 12.40
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available