Q31E (p.Gln31Glu) variant of RNF207 (RING finger protein 207)
Q31E (p.Gln31Glu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q31E (p.Gln31Glu) variant details
- p.Gln31Glu
- TOPMed rs1223768788
- gnomAD rs1223768788
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.68
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available