V92L (p.Val92Leu) variant of IFT172 (Q9UG01)
V92L (p.Val92Leu) 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.
V92L (p.Val92Leu) variant details
- p.Val92Leu
- rs2148559132
- ClinGen CA346402363
- ClinVar RCV001931526
- Ensembl rs2148559132
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.85
- MetaLR 0.44
- MetaSVM -0.17
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.95
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available