V53G (p.Val53Gly) variant of SMARCA2 (P51531)
V53G (p.Val53Gly) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V53G (p.Val53Gly) variant details
- p.Val53Gly
- gnomAD 9-2029180-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.42
- AlphaMissense 0.22
- MetaLR 0.48
- MetaSVM -0.18
- CADD 21.40
- PolyPhen-2 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available