L3W (p.Leu3Trp) variant of IFT172 (Q9UG01)
L3W (p.Leu3Trp) 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 0.57 / 1. The record also includes population frequency data and structural context.
L3W (p.Leu3Trp) variant details
- p.Leu3Trp
- rs1246454433
- ClinGen CA346404770
- ClinVar RCV002014482
- ClinVar RCV005225548
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.51
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available