C37R (p.Cys37Arg) variant of SLC30A8 (Q8IWU4)
C37R (p.Cys37Arg) in SLC30A8 (Q8IWU4) 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 0.06 / 1. The record also includes population frequency data and structural context.
C37R (p.Cys37Arg) variant details
- p.Cys37Arg
- rs141876609
- ClinGen CA4853448
- ClinVar RCV004459153
- 1000Genomes rs141876609
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0623
- REVEL 0.05
- CADD 2.60
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.11)
- Structural context available