I26V (p.Ile26Val) variant of SMARCA2 (P51531)
I26V (p.Ile26Val) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- gnomAD rs1482147918
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.36
- AlphaMissense 0.26
- MetaLR 0.51
- MetaSVM -0.25
- CADD 20.70
- PolyPhen-2 0.05
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available