S94T (p.Ser94Thr) variant of KRT9 (Keratin, type I cytoskeletal 9)
S94T (p.Ser94Thr) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S94T (p.Ser94Thr) variant details
- p.Ser94Thr
- ExAC rs752868539
- TOPMed rs752868539
- gnomAD rs752868539
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- CADD 9.89
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available