L42M (p.Leu42Met) variant of IFT172 (Q9UG01)
L42M (p.Leu42Met) 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 population frequency data and structural context.
L42M (p.Leu42Met) variant details
- p.Leu42Met
- rs1007620906
- ClinGen CA44520135
- NCI-TCGA Cosmic COSV5313
- NCI-TCGA Cosmic COSV5314
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.41
- MetaLR 0.53
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available