E97D (p.Glu97Asp) variant of IFT172 (Q9UG01)
E97D (p.Glu97Asp) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Short-rib thoracic dysplasia 10 with or without polydactyly; Retin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E97D (p.Glu97Asp) variant details
- p.Glu97Asp
- rs189236939
- ClinGen CA1581059
- cosmic curated COSV53133
- ClinVar RCV001374350
- Conflicting interpretations
- not provided; Short-rib thoracic dysplasia 10 with or without polydactyly; Retin
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.08
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (not provided; Short-rib thoracic dysplasia 10 with or without po)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- 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)