G8S (p.Gly8Ser) variant of BAK1 (Q16611)
G8S (p.Gly8Ser) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- gnomAD rs1188548906
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.25
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available