D77G (p.Asp77Gly) variant of IFT172 (Q9UG01)
D77G (p.Asp77Gly) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D77G (p.Asp77Gly) variant details
- p.Asp77Gly
- ExAC rs767606993
- gnomAD rs767606993
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.64
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available