P130A (p.Pro130Ala) variant of GNA13 (Q14344)
P130A (p.Pro130Ala) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
P130A (p.Pro130Ala) variant details
- p.Pro130Ala
- gnomAD 17-65053624-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.22
- MetaLR 0.30
- MetaSVM -0.63
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Literature evidence available