S8T (p.Ser8Thr) variant of GABRA1 (P14867)
S8T (p.Ser8Thr) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- TOPMed rs1187284959
- gnomAD rs1187284959
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.06
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available