R16H (p.Arg16His) variant of UNC80 (Protein unc-80 homolog)
R16H (p.Arg16His) 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 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
R16H (p.Arg16His) variant details
- p.Arg16His
- cosmic curated COSV55892
- gnomAD rs1477588949
- Uncertain significance
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- MetaLR 0.06
- MetaSVM -1.11
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Hypotonia, infantile, with psychomotor retardation and character)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)