N115H (p.Asn115His) variant of GNA13 (Q14344)
N115H (p.Asn115His) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
N115H (p.Asn115His) variant details
- p.Asn115His
- TOPMed rs1278568436
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.69
- MetaLR 0.79
- MetaSVM 0.71
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)