A9T (p.Ala9Thr) variant of SMARCA2 (P51531)
A9T (p.Ala9Thr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD rs1421915888
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.22
- AlphaMissense 0.14
- MetaLR 0.42
- MetaSVM -0.50
- CADD 19.50
- PolyPhen-2 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available