P35A (p.Pro35Ala) variant of SMARCA2 (P51531)
P35A (p.Pro35Ala) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- gnomAD 9-2029125-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.40
- AlphaMissense 0.13
- MetaLR 0.52
- MetaSVM -0.13
- CADD 21.90
- PolyPhen-2 0.45
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available