Q23H (p.Gln23His) variant of UNC80 (Protein unc-80 homolog)
Q23H (p.Gln23His) 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 and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- rs906070422
- TOPMed rs906070422
- ClinGen CA64662203
- ClinVar RCV002577078
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- MetaLR 0.24
- MetaSVM -0.58
- CADD 26.30
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available