G49S (p.Gly49Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
G49S (p.Gly49Ser) in KRT8 (Keratin, type II cytoskeletal 8) 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 0.12 / 1. The record also includes population frequency data.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 7.53
- PolyPhen-2 0.25
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)