L133P (p.Leu133Pro) variant of CARD9 (Q9H257)
L133P (p.Leu133Pro) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
L133P (p.Leu133Pro) variant details
- p.Leu133Pro
- gnomAD rs1833257523
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.23
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)