R49Q (p.Arg49Gln) variant of IFT172 (Q9UG01)
R49Q (p.Arg49Gln) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- rs151097967
- ClinGen CA1581113
- ClinVar RCV001299604
- ClinVar RCV001751576
- Uncertain significance
- not provided; Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.11
- CADD 26.00
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Bardet-Biedl syndrome 20; Short-rib thoracic dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00025)
- Structural context available