P7P (p.Pro7Pro) variant of SMARCA4 (P51532)
P7P (p.Pro7Pro) in SMARCA4 (P51532) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P7P (p.Pro7Pro) variant details
- p.Pro7Pro
- gnomAD 19-10984172-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.55
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available