Y91C (p.Tyr91Cys) variant of IFT172 (Q9UG01)
Y91C (p.Tyr91Cys) 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; Bardet-Biedl syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Y91C (p.Tyr91Cys) variant details
- p.Tyr91Cys
- cosmic curated COSV53129
- TOPMed rs1487026215
- gnomAD rs1487026215
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Bardet-Biedl syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.34
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Bar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available