G99S (p.Gly99Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
G99S (p.Gly99Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G99S (p.Gly99Ser) variant details
- p.Gly99Ser
- gnomAD rs1376594848
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.38
- CADD 15.50
- PolyPhen-2 0.06
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available