I26F (p.Ile26Phe) variant of SMARCA2 (P51531)
I26F (p.Ile26Phe) 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.
I26F (p.Ile26Phe) variant details
- p.Ile26Phe
- gnomAD 9-2029098-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.39
- AlphaMissense 0.40
- MetaLR 0.53
- MetaSVM 0.01
- CADD 23.60
- PolyPhen-2 0.56
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available