L100H (p.Leu100His) variant of NOD1 (Q9Y239)
L100H (p.Leu100His) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L100H (p.Leu100His) variant details
- p.Leu100His
- Ensembl rs773935994
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.69
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available