P125S (p.Pro125Ser) variant of NOD1 (Q9Y239)
P125S (p.Pro125Ser) 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 0.59 / 1. The record also includes population frequency data and structural context.
P125S (p.Pro125Ser) variant details
- p.Pro125Ser
- ExAC rs755862567
- gnomAD rs755862567
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.45
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available