Y1578C (p.Tyr1578Cys) variant of IFT172 (Q9UG01)
Y1578C (p.Tyr1578Cys) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.68 / 1. The record also includes population frequency data and structural context.
Y1578C (p.Tyr1578Cys) variant details
- p.Tyr1578Cys
- rs761504464
- ClinGen CA1579509
- ClinVar RCV002676048
- ExAC rs761504464
- Likely pathogenic
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.70
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available