R80* (p.Arg80Ter) variant of SHTN1 (Shootin-1)
R80* (p.Arg80Ter) in SHTN1 (Shootin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R80* (p.Arg80Ter) variant details
- p.Arg80Ter
- gnomAD rs1437792504
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 36.00
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available