G64C (p.Gly64Cys) variant of SLC22A2 (O15244)
G64C (p.Gly64Cys) in SLC22A2 (O15244) 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 0.53 / 1. The record also includes population frequency data and structural context.
G64C (p.Gly64Cys) variant details
- p.Gly64Cys
- rs754226685
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- ExAC rs754226685
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.54
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available