Y41L (p.Tyr41Leu) variant of BAK1 (Q16611)
Y41L (p.Tyr41Leu) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y41L (p.Tyr41Leu) variant details
- p.Tyr41Leu
- rs778587427
- gnomAD 6-33575877-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available