P24A (p.Pro24Ala) variant of NOD2 (Q9HC29)
P24A (p.Pro24Ala) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- rs1596819304
- gnomAD 16-50697313-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- MetaLR 0.10
- MetaSVM -0.96
- CADD 4.74
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available