M120I (p.Met120Ile) variant of CARD9 (Q9H257)
M120I (p.Met120Ile) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
M120I (p.Met120Ile) variant details
- p.Met120Ile
- Ensembl rs1833258944
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.38
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)