K61N (p.Lys61Asn) variant of IFT172 (Q9UG01)
K61N (p.Lys61Asn) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K61N (p.Lys61Asn) variant details
- p.Lys61Asn
- ExAC rs745703364
- gnomAD rs745703364
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.15
- CADD 29.70
- PolyPhen-2 0.39
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available