K141T (p.Lys141Thr) variant of IFT172 (Q9UG01)
K141T (p.Lys141Thr) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K141T (p.Lys141Thr) variant details
- p.Lys141Thr
- ExAC rs752403521
- gnomAD rs752403521
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.36
- CADD 26.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available