V126M (p.Val126Met) variant of NOD1 (Q9Y239)
V126M (p.Val126Met) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V126M (p.Val126Met) variant details
- p.Val126Met
- ExAC rs749926258
- TOPMed rs749926258
- gnomAD rs749926258
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.19
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available