D43del (p.Asp43del) variant of RNF207 (RING finger protein 207)
D43del (p.Asp43del) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D43del (p.Asp43del) variant details
- gnomAD 1-6206659-CACG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 21.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available