S15R (p.Ser15Arg) variant of GABRG2 (P18507)
S15R (p.Ser15Arg) in GABRG2 (P18507) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- rs1481640025
- gnomAD 5-162068041-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 24.90
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available