H2Q (p.His2Gln) variant of IFT172 (Q9UG01)
H2Q (p.His2Gln) in IFT172 (Q9UG01) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
H2Q (p.His2Gln) variant details
- p.His2Gln
- TOPMed rs1430470069
- gnomAD rs1430470069
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.03
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available