P106T (p.Pro106Thr) variant of SLC22A2 (O15244)
P106T (p.Pro106Thr) in SLC22A2 (O15244) 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 0.49 / 1. The record also includes population frequency data and structural context.
P106T (p.Pro106Thr) variant details
- p.Pro106Thr
- ExAC rs778009554
- gnomAD rs778009554
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.30
- CADD 24.70
- PolyPhen-2 0.73
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available