F33S (p.Phe33Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
F33S (p.Phe33Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F33S (p.Phe33Ser) variant details
- p.Phe33Ser
- gnomAD rs1461581307
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.52
- CADD 27.60
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available