V53V (p.Val53Val) variant of SMARCA2 (P51531)
V53V (p.Val53Val) in SMARCA2 (P51531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V53V (p.Val53Val) variant details
- p.Val53Val
- rs751953852
- gnomAD 9-2029181-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 6.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available