I125N (p.Ile125Asn) variant of IFT172 (Q9UG01)
I125N (p.Ile125Asn) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I125N (p.Ile125Asn) variant details
- p.Ile125Asn
- gnomAD rs1668563720
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.10
- CADD 17.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available