L8R (p.Leu8Arg) variant of SMARCA4 (P51532)
L8R (p.Leu8Arg) in SMARCA4 (P51532) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- rs2085803076
- gnomAD 19-10984173-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 27.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available