T1623I (p.Thr1623Ile) variant of IFT172 (Q9UG01)
T1623I (p.Thr1623Ile) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 71; Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T1623I (p.Thr1623Ile) variant details
- p.Thr1623Ile
- rs762958757
- ClinGen CA1579441
- ClinVar RCV001227918
- ClinVar RCV004738202
- Likely pathogenic
- Retinitis pigmentosa 71; Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.70
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa 71; Bardet-Biedl syndrome 20; Short-rib tho)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available