P36T (p.Pro36Thr) variant of UNC80 (Protein unc-80 homolog)
P36T (p.Pro36Thr) 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 0.35 / 1. The record also includes published literature and structural context.
P36T (p.Pro36Thr) variant details
- p.Pro36Thr
- rs2153824389
- ClinGen CA350124590
- ClinVar RCV003198758
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.93
- MetaLR 0.15
- MetaSVM -0.95
- PolyPhen-2 1.00
- SIFT 0.13
- MutPred 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)