A49V (p.Ala49Val) variant of BAK1 (Q16611)
A49V (p.Ala49Val) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD rs1286126080
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.04
- CADD 18.70
- PolyPhen-2 0.03
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available