V49G (p.Val49Gly) variant of GNA13 (Q14344)
V49G (p.Val49Gly) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V49G (p.Val49Gly) variant details
- p.Val49Gly
- ExAC rs78590636
- gnomAD rs78590636
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.59
- MetaLR 0.87
- MetaSVM 0.77
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0029)
- Structural context available