T4I (p.Thr4Ile) variant of KRT6B (Keratin, type II cytoskeletal 6B)
T4I (p.Thr4Ile) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- ExAC rs762438614
- gnomAD rs762438614
- Missense
- Variant Prioritization Score for Impact Estimate 0.0685
- REVEL 0.02
- CADD 9.61
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available