K16* (p.Lys16Ter) variant of EPAS1 (Q99814)
K16* (p.Lys16Ter) in EPAS1 (Q99814) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
K16* (p.Lys16Ter) variant details
- p.Lys16Ter
- Ensembl rs1558596469
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 42.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available