A148V (p.Ala148Val) variant of NOD1 (Q9Y239)
A148V (p.Ala148Val) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A148V (p.Ala148Val) variant details
- p.Ala148Val
- ExAC rs766706770
- TOPMed rs766706770
- gnomAD rs766706770
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.12
- CADD 12.00
- PolyPhen-2 0.08
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available