R103Q (p.Arg103Gln) variant of GNA13 (Q14344)
R103Q (p.Arg103Gln) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- ESP rs200512437
- ExAC rs200512437
- TOPMed rs200512437
- gnomAD rs200512437
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.80
- MetaLR 0.60
- MetaSVM 0.32
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 0.0001)