T5A (p.Thr5Ala) variant of SMARCA2 (P51531)
T5A (p.Thr5Ala) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD 9-2029035-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.27
- AlphaMissense 0.10
- MetaLR 0.42
- MetaSVM -0.50
- CADD 22.60
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available