S82C (p.Ser82Cys) variant of PCSK1 (Neuroendocrine convertase 1)
S82C (p.Ser82Cys) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S82C (p.Ser82Cys) variant details
- p.Ser82Cys
- ExAC rs760269702
- gnomAD rs760269702
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.27
- MetaLR 0.20
- MetaSVM -0.60
- CADD 26.80
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available