I21T (p.Ile21Thr) variant of KRT4 (Keratin, type II cytoskeletal 4)
I21T (p.Ile21Thr) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- ExAC rs758553006
- gnomAD rs758553006
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.03
- CADD 13.20
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available