V130A (p.Val130Ala) variant of CARD9 (Q9H257)
V130A (p.Val130Ala) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
V130A (p.Val130Ala) variant details
- p.Val130Ala
- Ensembl rs1833257824
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.09
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the South Asian population (allele frequency 0.00021)