N143H (p.Asn143His) variant of IFT172 (Q9UG01)
N143H (p.Asn143His) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
N143H (p.Asn143His) variant details
- p.Asn143His
- gnomAD rs1668543976
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.47
- CADD 25.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available