G54W (p.Gly54Trp) variant of KRT12 (Keratin, type I cytoskeletal 12)
G54W (p.Gly54Trp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G54W (p.Gly54Trp) variant details
- p.Gly54Trp
- 1000Genomes rs141949869
- ESP rs141949869
- ExAC rs141949869
- TOPMed rs141949869
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available