T24N (p.Thr24Asn) variant of UNC80 (Protein unc-80 homolog)
T24N (p.Thr24Asn) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T24N (p.Thr24Asn) variant details
- p.Thr24Asn
- rs1004014760
- ClinGen CA350124366
- ClinVar RCV002869724
- TOPMed rs1004014760
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- MetaLR 0.10
- MetaSVM -0.99
- CADD 21.90
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)