D92N (p.Asp92Asn) variant of HAVCR2 (Q8TDQ0)
D92N (p.Asp92Asn) in HAVCR2 (Q8TDQ0) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
D92N (p.Asp92Asn) variant details
- p.Asp92Asn
- 1000Genomes rs181855375
- ExAC rs181855375
- TOPMed rs181855375
- gnomAD rs181855375
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.06
- CADD 6.79
- PolyPhen-2 0.03
- SIFT 0.16
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)