G17V (p.Gly17Val) variant of UNC80 (Protein unc-80 homolog)
G17V (p.Gly17Val) 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 0.57 / 1. The record also includes population frequency data.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- rs2153824309
- ClinGen CA350124282
- ClinVar RCV002049997
- Ensembl rs2153824309
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- MetaLR 0.15
- MetaSVM -0.86
- CADD 24.30
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available