T24I (p.Thr24Ile) variant of UNC80 (Protein unc-80 homolog)
T24I (p.Thr24Ile) in UNC80 (Protein unc-80 homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T24I (p.Thr24Ile) variant details
- p.Thr24Ile
- TOPMed rs1004014760
- gnomAD rs1004014760
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- MetaLR 0.08
- MetaSVM -1.05
- CADD 21.40
- PolyPhen-2 0.10
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available