P48P (p.Pro48Pro) variant of SMARCA2 (P51531)
P48P (p.Pro48Pro) 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.
P48P (p.Pro48Pro) variant details
- p.Pro48Pro
- rs1482652997
- gnomAD 9-2029166-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.29
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available