S2T (p.Ser2Thr) variant of KRT2 (P35908)
S2T (p.Ser2Thr) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- TOPMed rs1196644892
- gnomAD rs1196644892
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.50
- CADD 22.80
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available