D99N (p.Asp99Asn) variant of NOD1 (Q9Y239)
D99N (p.Asp99Asn) in NOD1 (Q9Y239) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data and structural context.
D99N (p.Asp99Asn) variant details
- p.Asp99Asn
- ExAC rs757840023
- gnomAD rs757840023
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.34
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available