G82D (p.Gly82Asp) variant of SLC22A2 (O15244)
G82D (p.Gly82Asp) in SLC22A2 (O15244) 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 0.29 / 1. The record also includes population frequency data and structural context.
G82D (p.Gly82Asp) variant details
- p.Gly82Asp
- rs532711865
- ClinGen CA4084738
- cosmic curated COSV65265
- ClinVar RCV004172012
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.07
- CADD 7.81
- PolyPhen-2 0.23
- SIFT 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available