V13E (p.Val13Glu) variant of GNA13 (Q14344)
V13E (p.Val13Glu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
V13E (p.Val13Glu) variant details
- p.Val13Glu
- gnomAD rs1394622239
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.44
- MetaLR 0.48
- MetaSVM -0.29
- CADD 23.10
- SIFT 0.33
- Most common in the East Asian population (allele frequency 0.0002)