G71D (p.Gly71Asp) variant of IFT172 (Q9UG01)
G71D (p.Gly71Asp) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G71D (p.Gly71Asp) variant details
- p.Gly71Asp
- gnomAD rs1392472019
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.17
- CADD 21.50
- PolyPhen-2 0.26
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available