I110F (p.Ile110Phe) variant of IFT172 (Q9UG01)
I110F (p.Ile110Phe) 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 0.28 / 1. The record also includes population frequency data and structural context.
I110F (p.Ile110Phe) variant details
- p.Ile110Phe
- rs747883999
- ClinGen CA1581040
- ClinVar RCV001204688
- ExAC rs747883999
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.18
- CADD 21.60
- PolyPhen-2 0.29
- SIFT 0.45
- 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 African/African-American population (allele frequency 7.2e-05)
- Structural context available