N124S (p.Asn124Ser) variant of HAVCR2 (Q8TDQ0)
N124S (p.Asn124Ser) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
N124S (p.Asn124Ser) variant details
- p.Asn124Ser
- ExAC rs773053705
- TOPMed rs773053705
- gnomAD rs773053705
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.16
- CADD 5.34
- PolyPhen-2 0.23
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)