G49S (p.Gly49Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
G49S (p.Gly49Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- ExAC rs768837237
- TOPMed rs768837237
- gnomAD rs768837237
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.25
- CADD 6.66
- PolyPhen-2 0.02
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available