P18P (p.Pro18Pro) variant of SMARCA4 (P51532)
P18P (p.Pro18Pro) in SMARCA4 (P51532) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P18P (p.Pro18Pro) variant details
- p.Pro18Pro
- rs529632222
- gnomAD 19-10984205-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0879
- CADD 1.02
- Most common in the 1KG:PJL population (allele frequency 0.031)
- Structural context available
- Literature evidence available