H46L (p.His46Leu) variant of IFT172 (Q9UG01)
H46L (p.His46Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
H46L (p.His46Leu) variant details
- p.His46Leu
- rs1280850403
- ClinGen CA346403206
- ClinVar RCV002639977
- ClinVar RCV005019316
- Uncertain significance
- Bardet-Biedl syndrome 20; Retinitis pigmentosa 71; Short-rib thoracic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.20
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.59
- 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 African/African-American population (allele frequency 4.8e-05)
- Structural context available