C9S (p.Cys9Ser) variant of HAVCR2 (Q8TDQ0)
C9S (p.Cys9Ser) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
C9S (p.Cys9Ser) variant details
- p.Cys9Ser
- ESP rs142180056
- ExAC rs142180056
- TOPMed rs142180056
- gnomAD rs142180056
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)