I26T (p.Ile26Thr) variant of SMARCA2 (P51531)
I26T (p.Ile26Thr) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- rs1184325506
- ClinGen CA372779109
- ClinVar RCV003665869
- TOPMed rs1184325506
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.46
- AlphaMissense 0.93
- MetaLR 0.53
- MetaSVM 0.04
- CADD 23.40
- PolyPhen-2 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available