A49G (p.Ala49Gly) variant of RNF215 (RING finger protein 215)
A49G (p.Ala49Gly) in RNF215 (RING finger protein 215) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.22
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available