L130R (p.Leu130Arg) variant of IFT172 (Q9UG01)
L130R (p.Leu130Arg) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L130R (p.Leu130Arg) variant details
- p.Leu130Arg
- TOPMed rs1388593336
- gnomAD rs1388593336
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.68
- CADD 29.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available