G49S (p.Gly49Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
G49S (p.Gly49Ser) in KRT16 (Keratin, type I cytoskeletal 16) 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 0.35 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- ExAC rs755038313
- TOPMed rs755038313
- gnomAD rs755038313
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.22
- CADD 15.00
- PolyPhen-2 0.94
- SIFT 0.89
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available