G91A (p.Gly91Ala) variant of KRT9 (Keratin, type I cytoskeletal 9)
G91A (p.Gly91Ala) 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 0.34 / 1. The record also includes population frequency data and structural context.
G91A (p.Gly91Ala) variant details
- p.Gly91Ala
- gnomAD rs1413277294
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.38
- CADD 18.40
- PolyPhen-2 0.69
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available