G107S (p.Gly107Ser) variant of KRT2 (P35908)
G107S (p.Gly107Ser) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, 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.
G107S (p.Gly107Ser) variant details
- p.Gly107Ser
- 1000Genomes rs552494206
- ExAC rs552494206
- gnomAD rs552494206
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.38
- CADD 12.00
- PolyPhen-2 0.92
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available