P88L (p.Pro88Leu) variant of CARD9 (Q9H257)
P88L (p.Pro88Leu) in CARD9 (Q9H257) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- rs141691778
- NCI-TCGA Cosmic COSV5373
- ESP rs141691778
- ExAC rs141691778
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.60
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available