P6S (p.Pro6Ser) variant of GNA13 (Q14344)
P6S (p.Pro6Ser) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- ExAC rs771909520
- gnomAD rs771909520
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.45
- MetaLR 0.55
- MetaSVM 0.14
- CADD 24.50
- PolyPhen-2 0.19
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available