N72T (p.Asn72Thr) variant of SLC22A2 (O15244)
N72T (p.Asn72Thr) in SLC22A2 (O15244) 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 0.49 / 1. The record also includes population frequency data and structural context.
N72T (p.Asn72Thr) variant details
- p.Asn72Thr
- rs775454899
- ClinGen CA4084748
- ClinVar RCV004335079
- ExAC rs775454899
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.39
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available