S124* (p.Ser124Ter) variant of KRT12 (Keratin, type I cytoskeletal 12)
S124* (p.Ser124Ter) in KRT12 (Keratin, type I cytoskeletal 12) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S124* (p.Ser124Ter) variant details
- p.Ser124Ter
- ExAC rs752901553
- gnomAD rs752901553
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 34.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available