L48V (p.Leu48Val) variant of GNA13 (Q14344)
L48V (p.Leu48Val) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- ExAC rs763855583
- gnomAD rs763855583
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.33
- MetaLR 0.63
- MetaSVM 0.16
- CADD 22.80
- PolyPhen-2 0.94
- SIFT 0.92
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available