S114L (p.Ser114Leu) variant of GNA13 (Q14344)
S114L (p.Ser114Leu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
S114L (p.Ser114Leu) variant details
- p.Ser114Leu
- TOPMed rs939582792
- gnomAD rs939582792
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.22
- MetaLR 0.50
- MetaSVM -0.05
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 4.8e-05)