D39E (p.Asp39Glu) variant of RNF207 (RING finger protein 207)
D39E (p.Asp39Glu) in RNF207 (RING finger protein 207) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D39E (p.Asp39Glu) variant details
- p.Asp39Glu
- rs1044246467
- ClinGen CA17165357
- ClinVar RCV004446592
- TOPMed rs1044246467
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.47
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available