A54G (p.Ala54Gly) variant of BAK1 (Q16611)
A54G (p.Ala54Gly) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- TOPMed rs1561831487
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- CADD 9.63
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available