C10G (p.Cys10Gly) variant of PCSK1 (Neuroendocrine convertase 1)
C10G (p.Cys10Gly) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of PCSK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
C10G (p.Cys10Gly) variant details
- p.Cys10Gly
- rs761736517
- ClinGen CA3350611
- ClinVar RCV003939769
- ExAC rs761736517
- Likely benign
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -1.08
- CADD 11.70
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Likely benign (PCSK1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available