A49E (p.Ala49Glu) variant of RNF215 (RING finger protein 215)
A49E (p.Ala49Glu) in RNF215 (RING finger protein 215) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A49E (p.Ala49Glu) variant details
- p.Ala49Glu
- TOPMed rs1417565727
- gnomAD rs1417565727
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 7.54
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available