G130C (p.Gly130Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G130C (p.Gly130Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G130C (p.Gly130Cys) variant details
- p.Gly130Cys
- ExAC rs770355673
- gnomAD rs770355673
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.69
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available