A44V (p.Ala44Val) variant of UNC80 (Protein unc-80 homolog)
A44V (p.Ala44Val) 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 0.65 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- rs1430501768
- ClinGen CA350124701
- ClinVar RCV003036129
- TOPMed rs1430501768
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- MetaLR 0.21
- MetaSVM -0.72
- CADD 28.70
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available