A2V (p.Ala2Val) variant of BAK1 (Q16611)
A2V (p.Ala2Val) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1375591844
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.06
- CADD 23.60
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available