p.Pro22 Gly25del variant of SMARCA4 (P51532)
p.Pro22 Gly25del in SMARCA4 (P51532) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro22 Gly25del variant details
- gnomAD 19-10984207-GCCCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 21.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available