R49W (p.Arg49Trp) variant of IFT172 (Q9UG01)
R49W (p.Arg49Trp) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R49W (p.Arg49Trp) variant details
- p.Arg49Trp
- rs141043554
- ClinGen CA1581114
- cosmic curated COSV53131
- ClinVar RCV001064556
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)