V33L (p.Val33Leu) variant of IFT172 (Q9UG01)
V33L (p.Val33Leu) 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 0.59 / 1. The record also includes structural context.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- rs2148559931
- ClinGen CA346403563
- ClinVar RCV002011194
- Ensembl rs2148559931
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.60
- MetaLR 0.49
- MetaSVM -0.04
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.90
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available