I8T (p.Ile8Thr) variant of KRT6B (Keratin, type II cytoskeletal 6B)
I8T (p.Ile8Thr) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I8T (p.Ile8Thr) variant details
- p.Ile8Thr
- ExAC rs200240023
- TOPMed rs200240023
- gnomAD rs200240023
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.10
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available