M62I (p.Met62Ile) variant of KRT12 (Keratin, type I cytoskeletal 12)
M62I (p.Met62Ile) in KRT12 (Keratin, type I cytoskeletal 12) 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.
M62I (p.Met62Ile) variant details
- p.Met62Ile
- gnomAD rs998041365
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.28
- CADD 20.80
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available