T116K (p.Thr116Lys) variant of ANKRD1 (Q15327)
T116K (p.Thr116Lys) in ANKRD1 (Q15327) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T116K (p.Thr116Lys) variant details
- p.Thr116Lys
- NCI-TCGA Cosmic COSV6331
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.14
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.93
- EBI: uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available