P22P (p.Pro22Pro) variant of SMARCA4 (P51532)
P22P (p.Pro22Pro) in SMARCA4 (P51532) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P22P (p.Pro22Pro) variant details
- p.Pro22Pro
- rs2145722014
- gnomAD 19-10984217-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 9.78
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available