R40* (p.Arg40Ter) variant of KRT8 (Keratin, type II cytoskeletal 8)
R40* (p.Arg40Ter) in KRT8 (Keratin, type II cytoskeletal 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
R40* (p.Arg40Ter) variant details
- p.Arg40Ter
- cosmic curated COSV10587
- ExAC rs757223465
- gnomAD rs757223465
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 37.00
- Most common in the REMAINING population (allele frequency 1.7e-05)