G70S (p.Gly70Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
G70S (p.Gly70Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G70S (p.Gly70Ser) variant details
- p.Gly70Ser
- ExAC rs750681506
- TOPMed rs750681506
- gnomAD rs750681506
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.20
- CADD 9.10
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available