N115D (p.Asn115Asp) variant of GNA13 (Q14344)
N115D (p.Asn115Asp) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
N115D (p.Asn115Asp) variant details
- p.Asn115Asp
- TOPMed rs1278568436
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.73
- MetaLR 0.81
- MetaSVM 0.78
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)