M123L (p.Met123Leu) variant of GNA13 (Q14344)
M123L (p.Met123Leu) 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.
M123L (p.Met123Leu) variant details
- p.Met123Leu
- gnomAD rs1375850154
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.62
- MetaLR 0.58
- MetaSVM 0.07
- CADD 23.50
- PolyPhen-2 0.75
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)