P13R (p.Pro13Arg) variant of SMARCA2 (P51531)
P13R (p.Pro13Arg) in SMARCA2 (P51531) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- gnomAD 9-2029057-ACC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available