C130* (p.Cys130Ter) variant of KRT6A (Keratin, type II cytoskeletal 6A)
C130* (p.Cys130Ter) in KRT6A (Keratin, type II cytoskeletal 6A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
C130* (p.Cys130Ter) variant details
- p.Cys130Ter
- ExAC rs777003645
- gnomAD rs777003645
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 37.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available