S82G (p.Ser82Gly) variant of PCSK1 (Neuroendocrine convertase 1)
S82G (p.Ser82Gly) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S82G (p.Ser82Gly) variant details
- p.Ser82Gly
- ExAC rs760269702
- gnomAD rs760269702
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.06
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available