S71F (p.Ser71Phe) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S71F (p.Ser71Phe) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S71F (p.Ser71Phe) variant details
- p.Ser71Phe
- rs1203794781
- gnomAD rs1203794781
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.59
- CADD 27.40
- PolyPhen-2 0.80
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available