N113K (p.Asn113Lys) variant of GNA13 (Q14344)
N113K (p.Asn113Lys) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
N113K (p.Asn113Lys) variant details
- p.Asn113Lys
- gnomAD 17-65053673-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.19
- MetaLR 0.29
- MetaSVM -0.83
- CADD 8.55
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available