M43I (p.Met43Ile) variant of SMARCA2 (P51531)
M43I (p.Met43Ile) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
M43I (p.Met43Ile) variant details
- p.Met43Ile
- gnomAD 9-2029151-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.44
- AlphaMissense 0.78
- MetaLR 0.50
- MetaSVM -0.03
- CADD 24.30
- PolyPhen-2 0.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available