N115K (p.Asn115Lys) variant of GNA13 (Q14344)
N115K (p.Asn115Lys) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
N115K (p.Asn115Lys) variant details
- p.Asn115Lys
- Ensembl rs1907935539
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.58
- MetaLR 0.76
- MetaSVM 0.50
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)