K65Q (p.Lys65Gln) variant of IFT172 (Q9UG01)
K65Q (p.Lys65Gln) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K65Q (p.Lys65Gln) variant details
- p.Lys65Gln
- ExAC rs77598375
- gnomAD rs77598375
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.18
- CADD 22.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.8e-05)
- Structural context available