T55K (p.Thr55Lys) variant of CACNA1S (Q13698)
T55K (p.Thr55Lys) in CACNA1S (Q13698) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T55K (p.Thr55Lys) variant details
- p.Thr55Lys
- 1000Genomes rs549107212
- ExAC rs549107212
- TOPMed rs549107212
- gnomAD rs549107212
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.23
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available