I76M (p.Ile76Met) variant of KRT1 (Keratin, type II cytoskeletal 1)
I76M (p.Ile76Met) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I76M (p.Ile76Met) variant details
- p.Ile76Met
- gnomAD rs1302154097
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.35
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available