Y89C (p.Tyr89Cys) variant of GNA13 (Q14344)
Y89C (p.Tyr89Cys) in GNA13 (Q14344) is a missense change. Clinical records from ClinVar 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 0.55 / 1. The record also includes population frequency data.
Y89C (p.Tyr89Cys) variant details
- p.Tyr89Cys
- ExAC rs776632322
- TOPMed rs776632322
- gnomAD rs776632322
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.61
- MetaLR 0.77
- MetaSVM 0.46
- CADD 29.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)