G103E (p.Gly103Glu) variant of KRT9 (Keratin, type I cytoskeletal 9)
G103E (p.Gly103Glu) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G103E (p.Gly103Glu) variant details
- p.Gly103Glu
- Ensembl rs1567733322
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.40
- CADD 10.70
- PolyPhen-2 0.06
- SIFT 0.19
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available