G27S (p.Gly27Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
G27S (p.Gly27Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- TOPMed rs1285438277
- gnomAD rs1285438277
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.38
- CADD 21.10
- PolyPhen-2 1.00
- SIFT 0.28
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available