P17P (p.Pro17Pro) variant of SMARCA2 (P51531)
P17P (p.Pro17Pro) in SMARCA2 (P51531) 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.
P17P (p.Pro17Pro) variant details
- p.Pro17Pro
- rs148865068
- gnomAD 9-2029073-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0899
- CADD 1.31
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available