T79A (p.Thr79Ala) variant of IFT172 (Q9UG01)
T79A (p.Thr79Ala) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac. 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.
T79A (p.Thr79Ala) variant details
- p.Thr79Ala
- rs752069515
- ClinGen CA1581072
- ClinVar RCV001037389
- ClinVar RCV002479241
- Conflicting interpretations
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.26
- CADD 23.50
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00056)
- 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)