V69M (p.Val69Met) variant of IFT172 (Q9UG01)
V69M (p.Val69Met) 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 0.64 / 1. The record also includes population frequency data and structural context.
V69M (p.Val69Met) variant details
- p.Val69Met
- rs756299134
- ClinGen CA1581076
- ClinVar RCV001071548
- ExAC rs756299134
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.54
- CADD 25.10
- PolyPhen-2 0.99
- 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 Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available