S14* (p.Ser14Ter) variant of GABRB3 (P28472)
S14* (p.Ser14Ter) in GABRB3 (P28472) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S14* (p.Ser14Ter) variant details
- p.Ser14Ter
- gnomAD rs868500530
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available