H46Q (p.His46Gln) variant of IFT172 (Q9UG01)
H46Q (p.His46Gln) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
H46Q (p.His46Gln) variant details
- p.His46Gln
- gnomAD rs1668687495
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.19
- CADD 1.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available