G104S (p.Gly104Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
G104S (p.Gly104Ser) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G104S (p.Gly104Ser) variant details
- p.Gly104Ser
- NCI-TCGA Cosmic COSV5585
- TOPMed rs868735223
- gnomAD rs868735223
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.25
- CADD 3.84
- PolyPhen-2 0.09
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available