D94N (p.Asp94Asn) variant of PCSK1 (Neuroendocrine convertase 1)
D94N (p.Asp94Asn) 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 not provided. 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.
D94N (p.Asp94Asn) variant details
- p.Asp94Asn
- rs1761413119
- ClinGen CA360485078
- ClinVar RCV002275437
- Ensembl rs1761413119
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.12
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available