M43L (p.Met43Leu) variant of SMARCA2 (P51531)
M43L (p.Met43Leu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M43L (p.Met43Leu) variant details
- p.Met43Leu
- gnomAD 9-2029149-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.46
- AlphaMissense 0.25
- MetaLR 0.54
- MetaSVM -0.05
- CADD 23.90
- PolyPhen-2 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available