H48P (p.His48Pro) variant of SLC22A6 (Q4U2R8)
H48P (p.His48Pro) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H48P (p.His48Pro) variant details
- p.His48Pro
- Ensembl rs1590681449
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.31
- MetaLR 0.34
- MetaSVM -0.49
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.09
- Population evidence available
- Structural context available