I5M (p.Ile5Met) variant of RNF207 (RING finger protein 207)
I5M (p.Ile5Met) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I5M (p.Ile5Met) variant details
- p.Ile5Met
- gnomAD 1-6206550-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.10
- CADD 24.10
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available