P24P (p.Pro24Pro) variant of NOD2 (Q9HC29)
P24P (p.Pro24Pro) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P24P (p.Pro24Pro) variant details
- p.Pro24Pro
- rs947655808
- gnomAD 16-50697315-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 7.63
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available