A78V (p.Ala78Val) variant of CARD9 (Q9H257)
A78V (p.Ala78Val) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- cosmic curated COSV53731
- gnomAD rs1182277747
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 7.2e-05)