S43L (p.Ser43Leu) variant of MCL1 (Q07820)
S43L (p.Ser43Leu) in MCL1 (Q07820) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- gnomAD rs1267652025
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.02
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the South Asian population (allele frequency 8.5e-05)
- Structural context available