A9A (p.Ala9Ala) variant of SMARCA2 (P51531)
A9A (p.Ala9Ala) in SMARCA2 (P51531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- rs149689575
- gnomAD 9-2029049-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.92
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available
- Literature evidence available