S25R (p.Ser25Arg) variant of GABRA1 (P14867)
S25R (p.Ser25Arg) in GABRA1 (P14867) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S25R (p.Ser25Arg) variant details
- p.Ser25Arg
- ESP rs75423500
- ExAC rs75423500
- gnomAD rs75423500
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.41
- CADD 19.20
- PolyPhen-2 0.11
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available