G15V (p.Gly15Val) variant of IFT172 (Q9UG01)
G15V (p.Gly15Val) 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 0.43 / 1. The record also includes structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- rs1572838053
- ClinGen CA346404090
- ClinVar RCV002003558
- ClinVar RCV002486537
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.65
- MetaLR 0.21
- MetaSVM -0.78
- PolyPhen-2 0.90
- SIFT 0.23
- EVE 0.47
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available