T157K (p.Thr157Lys) variant of PCSK1 (Neuroendocrine convertase 1)
T157K (p.Thr157Lys) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and structural context.
T157K (p.Thr157Lys) variant details
- p.Thr157Lys
- ESP rs200462856
- ExAC rs200462856
- TOPMed rs200462856
- gnomAD rs200462856
- Likely pathogenic
- Missense
- MetaLR 0.68
- MetaSVM 0.47
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available