S124L (p.Ser124Leu) variant of GNA13 (Q14344)
S124L (p.Ser124Leu) in GNA13 (Q14344) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
S124L (p.Ser124Leu) variant details
- p.Ser124Leu
- rs1167868480
- ClinGen CA400662257
- ClinVar RCV004116202
- TOPMed rs1167868480
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.34
- MetaLR 0.57
- MetaSVM 0.02
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)