S67F (p.Ser67Phe) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S67F (p.Ser67Phe) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S67F (p.Ser67Phe) variant details
- p.Ser67Phe
- TOPMed rs1479388107
- gnomAD rs1479388107
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.45
- CADD 24.50
- PolyPhen-2 0.50
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available