C9W (p.Cys9Trp) variant of HAVCR2 (Q8TDQ0)
C9W (p.Cys9Trp) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
C9W (p.Cys9Trp) variant details
- p.Cys9Trp
- ExAC rs771412436
- gnomAD rs771412436
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)