S54T (p.Ser54Thr) variant of SMARCA2 (P51531)
S54T (p.Ser54Thr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- gnomAD 9-2029182-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.28
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.77
- CADD 17.70
- PolyPhen-2 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available