Q101R (p.Gln101Arg) variant of BAK1 (Q16611)
Q101R (p.Gln101Arg) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q101R (p.Gln101Arg) variant details
- p.Gln101Arg
- gnomAD 6-33575346-T-TGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available