P13P (p.Pro13Pro) variant of SMARCA2 (P51531)
P13P (p.Pro13Pro) in SMARCA2 (P51531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P13P (p.Pro13Pro) variant details
- p.Pro13Pro
- rs1563716357
- gnomAD 9-2029061-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.47
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available