T46N (p.Thr46Asn) variant of SLC22A2 (O15244)
T46N (p.Thr46Asn) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T46N (p.Thr46Asn) variant details
- p.Thr46Asn
- ExAC rs755389619
- gnomAD rs755389619
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.47
- CADD 22.90
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available