G108S (p.Gly108Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G108S (p.Gly108Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G108S (p.Gly108Ser) variant details
- p.Gly108Ser
- TOPMed rs963482388
- gnomAD rs963482388
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.31
- CADD 12.80
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available