H5D (p.His5Asp) variant of IFT172 (Q9UG01)
H5D (p.His5Asp) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H5D (p.His5Asp) variant details
- p.His5Asp
- ExAC rs754840856
- gnomAD rs754840856
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.18
- CADD 26.30
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available