V137M (p.Val137Met) variant of GNA13 (Q14344)
V137M (p.Val137Met) 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 0.52 / 1. The record also includes population frequency data.
V137M (p.Val137Met) variant details
- p.Val137Met
- rs1443341189
- ClinGen CA400662176
- ClinVar RCV004263425
- TOPMed rs1443341189
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.38
- MetaLR 0.59
- MetaSVM 0.08
- CADD 22.60
- PolyPhen-2 0.16
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)