K30R (p.Lys30Arg) variant of GNA13 (Q14344)
K30R (p.Lys30Arg) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- TOPMed rs1055360347
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.42
- MetaLR 0.54
- MetaSVM -0.22
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.83
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)