A64T (p.Ala64Thr) variant of UNC80 (Protein unc-80 homolog)
A64T (p.Ala64Thr) 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 0.60 / 1. The record also includes population frequency data and structural context.
A64T (p.Ala64Thr) variant details
- p.Ala64Thr
- rs2076836398
- ClinGen CA350130639
- ClinVar RCV001961741
- Ensembl rs2076836398
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- MetaLR 0.08
- MetaSVM -1.10
- CADD 24.50
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available