T14I (p.Thr14Ile) variant of KRT8 (Keratin, type II cytoskeletal 8)
T14I (p.Thr14Ile) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- ExAC rs781721772
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available