G20V (p.Gly20Val) variant of SMARCA2 (P51531)
G20V (p.Gly20Val) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD 9-2029081-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.62
- AlphaMissense 0.58
- MetaLR 0.81
- MetaSVM 0.77
- CADD 26.80
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available