T69A (p.Thr69Ala) variant of KRT2 (P35908)
T69A (p.Thr69Ala) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T69A (p.Thr69Ala) variant details
- p.Thr69Ala
- ESP rs373485048
- ExAC rs373485048
- TOPMed rs373485048
- gnomAD rs373485048
- Missense
- Variant Prioritization Score for Impact Estimate 0.0994
- REVEL 0.10
- CADD 5.60
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available