Q85P (p.Gln85Pro) variant of SLC22A6 (Q4U2R8)
Q85P (p.Gln85Pro) 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 0.13 / 1. The record also includes population frequency data and structural context.
Q85P (p.Gln85Pro) variant details
- p.Gln85Pro
- ExAC rs761610586
- gnomAD rs761610586
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -0.99
- CADD 3.08
- PolyPhen-2 0.07
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available