Y62C (p.Tyr62Cys) variant of IFT172 (Q9UG01)
Y62C (p.Tyr62Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
Y62C (p.Tyr62Cys) variant details
- p.Tyr62Cys
- rs2148559384
- ClinGen CA346402822
- ClinVar RCV001970978
- Ensembl rs2148559384
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.26
- CADD 26.20
- PolyPhen-2 0.89
- SIFT 0.05
- 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 Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available