I70T (p.Ile70Thr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
I70T (p.Ile70Thr) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I70T (p.Ile70Thr) variant details
- p.Ile70Thr
- ExAC rs751333405
- gnomAD rs751333405
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available