P46T (p.Pro46Thr) variant of SLC22A1 (O15245)
P46T (p.Pro46Thr) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P46T (p.Pro46Thr) variant details
- p.Pro46Thr
- ExAC rs747192524
- gnomAD rs747192524
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.73
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available