D44A (p.Asp44Ala) variant of RNF215 (RING finger protein 215)
D44A (p.Asp44Ala) in RNF215 (RING finger protein 215) 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 0.27 / 1. The record also includes structural context.
D44A (p.Asp44Ala) variant details
- p.Asp44Ala
- rs2518375443
- ClinGen CA411202918
- ClinVar RCV004226658
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available