S124W (p.Ser124Trp) variant of GNA13 (Q14344)
S124W (p.Ser124Trp) in GNA13 (Q14344) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
S124W (p.Ser124Trp) variant details
- p.Ser124Trp
- TOPMed rs1167868480
- gnomAD rs1167868480
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.61
- MetaLR 0.81
- MetaSVM 0.79
- CADD 27.60
- PolyPhen-2 0.75
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)