K94T (p.Lys94Thr) variant of IFT172 (Q9UG01)
K94T (p.Lys94Thr) 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 0.32 / 1. The record also includes structural context.
K94T (p.Lys94Thr) variant details
- p.Lys94Thr
- rs1668654872
- ClinGen CA346402324
- ClinVar RCV001909710
- TOPMed rs1668654872
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.96
- PolyPhen-2 0.70
- SIFT 0.16
- EVE 0.15
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available