A138T (p.Ala138Thr) variant of IFT172 (Q9UG01)
A138T (p.Ala138Thr) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 20; Retinitis pigmentosa 71; Short-rib thoracic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A138T (p.Ala138Thr) variant details
- p.Ala138Thr
- rs1461000488
- ClinGen CA346400859
- ClinVar RCV001871450
- ClinVar RCV002503486
- Uncertain significance
- Bardet-Biedl syndrome 20; Retinitis pigmentosa 71; Short-rib thoracic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.38
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 20; Retinitis pigmentosa 71; Short-rib tho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available