T112M (p.Thr112Met) variant of IFT172 (Q9UG01)
T112M (p.Thr112Met) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T112M (p.Thr112Met) variant details
- p.Thr112Met
- rs191146686
- ClinGen CA1581037
- ClinVar RCV002027040
- 1000Genomes rs191146686
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.13
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available