N113D (p.Asn113Asp) variant of SLC22A2 (O15244)
N113D (p.Asn113Asp) 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 0.18 / 1. The record also includes population frequency data and structural context.
N113D (p.Asn113Asp) variant details
- p.Asn113Asp
- ExAC rs765415036
- TOPMed rs765415036
- gnomAD rs765415036
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.14
- CADD 15.30
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available