K65E (p.Lys65Glu) variant of IFT172 (Q9UG01)
K65E (p.Lys65Glu) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K65E (p.Lys65Glu) variant details
- p.Lys65Glu
- ExAC rs77598375
- gnomAD rs77598375
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- CADD 26.50
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0027)
- Structural context available