I70T (p.Ile70Thr) variant of KRT6B (Keratin, type II cytoskeletal 6B)
I70T (p.Ile70Thr) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I70T (p.Ile70Thr) variant details
- p.Ile70Thr
- TOPMed rs1940410312
- gnomAD rs1940410312
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.54
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available