D107N (p.Asp107Asn) variant of SLC22A6 (Q4U2R8)
D107N (p.Asp107Asn) in SLC22A6 (Q4U2R8) 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 0.15 / 1. The record also includes population frequency data and structural context.
D107N (p.Asp107Asn) variant details
- p.Asp107Asn
- rs565805838
- ClinGen CA6059486
- cosmic curated COSV10970
- ClinVar RCV004091665
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -0.95
- CADD 9.91
- PolyPhen-2 0.11
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available