T7I (p.Thr7Ile) variant of KRT6B (Keratin, type II cytoskeletal 6B)
T7I (p.Thr7Ile) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- ExAC rs759200378
- TOPMed rs759200378
- gnomAD rs759200378
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.05
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available