G18S (p.Gly18Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G18S (p.Gly18Ser) in KRT3 (Keratin, type II cytoskeletal 3) 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 0.25 / 1. The record also includes population frequency data and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- rs750889026
- NCI-TCGA Cosmic COSV5881
- ExAC rs750889026
- TOPMed rs750889026
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.19
- CADD 9.02
- PolyPhen-2 0.07
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available