L9W (p.Leu9Trp) variant of RNF207 (RING finger protein 207)
L9W (p.Leu9Trp) in RNF207 (RING finger protein 207) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L9W (p.Leu9Trp) variant details
- p.Leu9Trp
- rs1313319721
- gnomAD 1-6206556-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 20.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available