T157M (p.Thr157Met) variant of PCSK1 (Neuroendocrine convertase 1)
T157M (p.Thr157Met) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
T157M (p.Thr157Met) variant details
- p.Thr157Met
- rs200462856
- ClinGen CA3350477
- ClinVar RCV001822262
- ClinVar RCV003941147
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.82
- MetaLR 0.81
- MetaSVM 0.80
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available