C10S (p.Cys10Ser) variant of GABRA1 (P14867)
C10S (p.Cys10Ser) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
C10S (p.Cys10Ser) variant details
- p.Cys10Ser
- rs1476709358
- ClinVar RCV004588657
- TOPMed rs1476709358
- gnomAD rs1476709358
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.16
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available