G74S (p.Gly74Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
G74S (p.Gly74Ser) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G74S (p.Gly74Ser) variant details
- p.Gly74Ser
- TOPMed rs1188648638
- gnomAD rs1188648638
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.31
- CADD 4.41
- PolyPhen-2 0.06
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available