G48A (p.Gly48Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
G48A (p.Gly48Ala) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.36 / 1. The record also includes population frequency data and structural context.
G48A (p.Gly48Ala) variant details
- p.Gly48Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.35
- CADD 15.60
- PolyPhen-2 0.10
- SIFT 0.25
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available