R103L (p.Arg103Leu) variant of GNA13 (Q14344)
R103L (p.Arg103Leu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
R103L (p.Arg103Leu) variant details
- p.Arg103Leu
- ESP rs200512437
- ExAC rs200512437
- TOPMed rs200512437
- gnomAD rs200512437
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.85
- MetaLR 0.60
- MetaSVM 0.29
- CADD 27.50
- PolyPhen-2 0.68
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)