P125A (p.Pro125Ala) variant of NOD1 (Q9Y239)
P125A (p.Pro125Ala) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P125A (p.Pro125Ala) variant details
- p.Pro125Ala
- ExAC rs755862567
- gnomAD rs755862567
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.43
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available