A49G (p.Ala49Gly) variant of BAK1 (Q16611)
A49G (p.Ala49Gly) 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.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- gnomAD rs1286126080
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.26
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available