K65N (p.Lys65Asn) variant of IFT172 (Q9UG01)
K65N (p.Lys65Asn) 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.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- ExAC rs749094840
- gnomAD rs749094840
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.06
- CADD 21.60
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the South Asian population (allele frequency 9.4e-05)
- Structural context available