P130L (p.Pro130Leu) variant of GNA13 (Q14344)
P130L (p.Pro130Leu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
P130L (p.Pro130Leu) variant details
- p.Pro130Leu
- gnomAD 17-65053623-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.28
- MetaLR 0.43
- MetaSVM -0.64
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available