E45D (p.Glu45Asp) variant of IFT172 (Q9UG01)
E45D (p.Glu45Asp) 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; Short-rib thoracic dysplasia 10 with or without polyda. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- rs1350745027
- ClinGen CA346403220
- ClinVar RCV001321974
- ClinVar RCV004548163
- Uncertain significance
- Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with or without polyda
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.24
- CADD 14.80
- PolyPhen-2 0.08
- SIFT 0.13
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia 10 with o)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available