T157S (p.Thr157Ser) variant of PCSK1 (Neuroendocrine convertase 1)
T157S (p.Thr157Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T157S (p.Thr157Ser) variant details
- p.Thr157Ser
- gnomAD rs1406395982
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.61
- MetaLR 0.63
- MetaSVM 0.30
- CADD 24.90
- PolyPhen-2 0.78
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available