M68T (p.Met68Thr) variant of IFT172 (Q9UG01)
M68T (p.Met68Thr) in IFT172 (Q9UG01) 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 0.40 / 1. The record also includes published literature and structural context.
M68T (p.Met68Thr) variant details
- p.Met68Thr
- rs1357949641
- ClinGen CA346402755
- ClinVar RCV002732691
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.37
- MetaLR 0.21
- MetaSVM -0.78
- PolyPhen-2 0.12
- SIFT 0.02
- EVE 0.43
- 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)