V100A (p.Val100Ala) variant of GNA13 (Q14344)
V100A (p.Val100Ala) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
V100A (p.Val100Ala) variant details
- p.Val100Ala
- Ensembl rs1598503863
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.81
- MetaLR 0.61
- MetaSVM 0.12
- CADD 23.30
- PolyPhen-2 0.09
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)