T69P (p.Thr69Pro) variant of KRT2 (P35908)
T69P (p.Thr69Pro) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T69P (p.Thr69Pro) variant details
- p.Thr69Pro
- ESP rs373485048
- ExAC rs373485048
- TOPMed rs373485048
- gnomAD rs373485048
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.18
- CADD 12.60
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available