S16F (p.Ser16Phe) variant of NOD1 (Q9Y239)
S16F (p.Ser16Phe) 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 0.22 / 1. The record also includes population frequency data and structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- rs771370435
- ClinGen CA4205340
- ClinVar RCV004073032
- ExAC rs771370435
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.16
- CADD 14.00
- PolyPhen-2 0.28
- SIFT 0.39
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available