T116A (p.Thr116Ala) variant of ANKRD1 (Q15327)
T116A (p.Thr116Ala) 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 0.17 / 1. The record also includes population frequency data and structural context.
T116A (p.Thr116Ala) variant details
- p.Thr116Ala
- rs774406553
- ExAC rs774406553
- gnomAD rs774406553
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.04
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.88
- EBI: uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available