N85S (p.Asn85Ser) variant of HAVCR2 (Q8TDQ0)
N85S (p.Asn85Ser) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
N85S (p.Asn85Ser) variant details
- p.Asn85Ser
- ESP rs376605513
- ExAC rs376605513
- TOPMed rs376605513
- gnomAD rs376605513
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.08
- CADD 10.60
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)