G32V (p.Gly32Val) variant of SMARCA2 (P51531)
G32V (p.Gly32Val) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- gnomAD 9-2029117-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.60
- AlphaMissense 0.46
- MetaLR 0.79
- MetaSVM 0.67
- CADD 25.40
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available