T3I (p.Thr3Ile) variant of KRT16 (Keratin, type I cytoskeletal 16)
T3I (p.Thr3Ile) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- ExAC rs763043015
- TOPMed rs763043015
- gnomAD rs763043015
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.52
- SIFT 0.03
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available