M43V (p.Met43Val) variant of SMARCA2 (P51531)
M43V (p.Met43Val) 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.
M43V (p.Met43Val) variant details
- p.Met43Val
- gnomAD 9-2029149-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.48
- AlphaMissense 0.19
- MetaLR 0.54
- MetaSVM -0.01
- CADD 23.50
- PolyPhen-2 0.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available