C36L (p.Cys36Leu) variant of RNF207 (RING finger protein 207)
C36L (p.Cys36Leu) in RNF207 (RING finger protein 207) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C36L (p.Cys36Leu) variant details
- p.Cys36Leu
- gnomAD 1-6206640-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available