V13L (p.Val13Leu) variant of CARD9 (Q9H257)
V13L (p.Val13Leu) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- cosmic curated COSV53738
- ESP rs377431254
- ExAC rs377431254
- TOPMed rs377431254
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0561
- REVEL 0.06
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)