P15A (p.Pro15Ala) variant of SMARCA2 (P51531)
P15A (p.Pro15Ala) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- gnomAD 9-2029065-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.55
- AlphaMissense 0.33
- MetaLR 0.81
- MetaSVM 0.76
- CADD 25.20
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available