Y32H (p.Tyr32His) variant of RNF207 (RING finger protein 207)
Y32H (p.Tyr32His) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Y32H (p.Tyr32His) variant details
- p.Tyr32His
- gnomAD 1-6206629-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.75
- CADD 29.10
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available