A114T (p.Ala114Thr) variant of IFT172 (Q9UG01)
A114T (p.Ala114Thr) 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 0.45 / 1. The record also includes population frequency data and structural context.
A114T (p.Ala114Thr) variant details
- p.Ala114Thr
- rs2148556996
- ClinGen CA346401634
- ClinVar RCV001890421
- Ensembl rs2148556996
- Uncertain significance
- Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydac
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.29
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.03
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available