G15D (p.Gly15Asp) variant of UNC80 (Protein unc-80 homolog)
G15D (p.Gly15Asp) in UNC80 (Protein unc-80 homolog) 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 0.55 / 1. The record also includes population frequency data.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- rs1574377240
- ClinGen CA350124257
- ClinVar RCV001944637
- Ensembl rs1574377240
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- MetaLR 0.04
- MetaSVM -1.10
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available