T24A (p.Thr24Ala) variant of UNC80 (Protein unc-80 homolog)
T24A (p.Thr24Ala) 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 and structural context.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- rs1402776898
- ClinGen CA350124363
- ClinVar RCV001988095
- TOPMed rs1402776898
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- MetaLR 0.09
- MetaSVM -0.98
- CADD 22.60
- PolyPhen-2 0.60
- 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 6.5e-06)
- Structural context available