T45A (p.Thr45Ala) variant of KRT16 (Keratin, type I cytoskeletal 16)
T45A (p.Thr45Ala) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
T45A (p.Thr45Ala) variant details
- p.Thr45Ala
- ExAC rs778084613
- TOPMed rs778084613
- gnomAD rs778084613
- Missense
- Variant Prioritization Score for Impact Estimate 0.0939
- REVEL 0.10
- CADD 1.25
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available