T20I (p.Thr20Ile) variant of IFT172 (Q9UG01)
T20I (p.Thr20Ile) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- rs751486617
- ClinGen CA1581125
- ClinVar RCV001213916
- ClinVar RCV004548070
- Conflicting interpretations
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- 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)