T2I (p.Thr2Ile) variant of KRT16 (Keratin, type I cytoskeletal 16)
T2I (p.Thr2Ile) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- ExAC rs752063430
- TOPMed rs752063430
- gnomAD rs752063430
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.29
- CADD 23.30
- PolyPhen-2 0.22
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available