A54V (p.Ala54Val) variant of BAK1 (Q16611)
A54V (p.Ala54Val) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- TOPMed rs1561831487
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.03
- CADD 8.69
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available