T2S (p.Thr2Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
T2S (p.Thr2Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- ExAC rs752063430
- TOPMed rs752063430
- gnomAD rs752063430
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.06
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available