D13N (p.Asp13Asn) variant of UNC80 (Protein unc-80 homolog)
D13N (p.Asp13Asn) 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 0.48 / 1. The record also includes population frequency data.
D13N (p.Asp13Asn) variant details
- p.Asp13Asn
- rs2076605926
- ClinGen CA350124226
- ClinVar RCV001867284
- gnomAD rs2076605926
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)