D87N (p.Asp87Asn) variant of IFT172 (Q9UG01)
D87N (p.Asp87Asn) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
D87N (p.Asp87Asn) variant details
- p.Asp87Asn
- ExAC rs771712132
- gnomAD rs771712132
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.67
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available