S77N (p.Ser77Asn) variant of NOD1 (Q9Y239)
S77N (p.Ser77Asn) 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.
S77N (p.Ser77Asn) variant details
- p.Ser77Asn
- gnomAD rs1172651319
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available