S16T (p.Ser16Thr) variant of NOD1 (Q9Y239)
S16T (p.Ser16Thr) in NOD1 (Q9Y239) 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 0.07 / 1. The record also includes population frequency data and structural context.
S16T (p.Ser16Thr) variant details
- p.Ser16Thr
- rs776959941
- ClinGen CA4205341
- ClinVar RCV004073031
- ExAC rs776959941
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0711
- REVEL 0.07
- CADD 0.28
- PolyPhen-2 0.05
- SIFT 0.68
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available