A52T (p.Ala52Thr) variant of RNF215 (RING finger protein 215)
A52T (p.Ala52Thr) in RNF215 (RING finger protein 215) is a missense change. Clinical records from ClinVar 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 0.16 / 1. The record also includes population frequency data and structural context.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- TOPMed rs1198784319
- gnomAD rs1198784319
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available