P7A (p.Pro7Ala) variant of SMARCA2 (P51531)
P7A (p.Pro7Ala) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD rs1467981003
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.32
- AlphaMissense 0.08
- MetaLR 0.59
- MetaSVM -0.09
- CADD 22.80
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available