M68I (p.Met68Ile) variant of IFT172 (Q9UG01)
M68I (p.Met68Ile) 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; IFT172-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M68I (p.Met68Ile) variant details
- p.Met68Ile
- rs1467002304
- ClinGen CA346402750
- ClinVar RCV003286053
- ClinVar RCV004548548
- Uncertain significance
- Inborn genetic diseases; IFT172-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.05
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; IFT172-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)