T138K (p.Thr138Lys) variant of PCSK1 (Neuroendocrine convertase 1)
T138K (p.Thr138Lys) in PCSK1 (Neuroendocrine convertase 1) 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 0.31 / 1. The record also includes population frequency data and structural context.
T138K (p.Thr138Lys) variant details
- p.Thr138Lys
- ExAC rs759857993
- TOPMed rs759857993
- gnomAD rs759857993
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.20
- MetaLR 0.36
- MetaSVM -0.44
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.32
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available