H48Q (p.His48Gln) variant of SLC22A6 (Q4U2R8)
H48Q (p.His48Gln) in SLC22A6 (Q4U2R8) 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 0.35 / 1. The record also includes population frequency data and structural context.
H48Q (p.His48Gln) variant details
- p.His48Gln
- cosmic curated COSV10747
- ExAC rs747002284
- gnomAD rs747002284
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.32
- MetaLR 0.32
- MetaSVM -0.45
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available