S33I (p.Ser33Ile) variant of KRT2 (P35908)
S33I (p.Ser33Ile) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S33I (p.Ser33Ile) variant details
- p.Ser33Ile
- ExAC rs772907181
- TOPMed rs772907181
- gnomAD rs772907181
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.76
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available