D94G (p.Asp94Gly) variant of PCSK1 (Neuroendocrine convertase 1)
D94G (p.Asp94Gly) 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 PCSK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D94G (p.Asp94Gly) variant details
- p.Asp94Gly
- rs1195026964
- ClinGen CA360485074
- ClinVar RCV003959250
- TOPMed rs1195026964
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available