V38M (p.Val38Met) variant of KRT6B (Keratin, type II cytoskeletal 6B)
V38M (p.Val38Met) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- TOPMed rs1316716310
- gnomAD rs1316716310
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.14
- CADD 8.76
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available