S46C (p.Ser46Cys) variant of RNF215 (RING finger protein 215)
S46C (p.Ser46Cys) 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 0.25 / 1. The record also includes structural context.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- rs2518375425
- ClinGen CA411202894
- ClinVar RCV004184314
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 0.00
- AlphaMissense 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available