G75S (p.Gly75Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
G75S (p.Gly75Ser) in KRT17 (Keratin, type I cytoskeletal 17) 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 0.19 / 1. The record also includes population frequency data and structural context.
G75S (p.Gly75Ser) variant details
- p.Gly75Ser
- rs1294575047
- TOPMed rs1294575047
- gnomAD rs1294575047
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.14
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available