P33A (p.Pro33Ala) variant of SMARCA2 (P51531)
P33A (p.Pro33Ala) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P33A (p.Pro33Ala) variant details
- p.Pro33Ala
- gnomAD 9-2029119-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.36
- AlphaMissense 0.14
- MetaLR 0.75
- MetaSVM 0.58
- CADD 23.40
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available