G108C (p.Gly108Cys) variant of KRT5 (Keratin, type II cytoskeletal 5)
G108C (p.Gly108Cys) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G108C (p.Gly108Cys) variant details
- p.Gly108Cys
- NCI-TCGA TCGA novel
- 1000Genomes rs146022149
- ESP rs146022149
- ExAC rs146022149
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.47
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available