D59E (p.Asp59Glu) variant of IFT172 (Q9UG01)
D59E (p.Asp59Glu) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of IFT172-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D59E (p.Asp59Glu) variant details
- p.Asp59Glu
- rs950375924
- ClinGen CA346402936
- ClinVar RCV004548652
- Uncertain significance
- IFT172-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.12
- CADD 16.80
- PolyPhen-2 0.20
- SIFT 0.10
- ClinVar: Uncertain significance (IFT172-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available