S112F (p.Ser112Phe) variant of NOD1 (Q9Y239)
S112F (p.Ser112Phe) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S112F (p.Ser112Phe) variant details
- p.Ser112Phe
- 1000Genomes rs145135608
- ESP rs145135608
- ExAC rs145135608
- TOPMed rs145135608
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.42
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available