L12V (p.Leu12Val) variant of MCL1 (Q07820)
L12V (p.Leu12Val) in MCL1 (Q07820) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD rs1229708032
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- CADD 23.40
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available