L6V (p.Leu6Val) variant of IFT172 (Q9UG01)
L6V (p.Leu6Val) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- TOPMed rs1245102913
- gnomAD rs1245102913
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.02
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available