S12P (p.Ser12Pro) variant of GNA13 (Q14344)
S12P (p.Ser12Pro) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- gnomAD rs1484381948
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.53
- MetaLR 0.47
- MetaSVM -0.28
- CADD 23.30
- PolyPhen-2 0.31
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available