A64P (p.Ala64Pro) variant of UNC80 (Protein unc-80 homolog)
A64P (p.Ala64Pro) 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.
A64P (p.Ala64Pro) variant details
- p.Ala64Pro
- rs2076836398
- ClinGen CA350130640
- ClinVar RCV003047063
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.08
- MetaSVM -1.13
- CADD 24.70
- PolyPhen-2 0.88
- 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 1.8e-06)
- Structural context available