G74C (p.Gly74Cys) variant of KRT3 (Keratin, type II cytoskeletal 3)
G74C (p.Gly74Cys) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G74C (p.Gly74Cys) variant details
- p.Gly74Cys
- rs557308178
- NCI-TCGA Cosmic COSV5881
- 1000Genomes rs557308178
- ExAC rs557308178
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.21
- CADD 16.10
- PolyPhen-2 0.05
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available