D71N (p.Asp71Asn) variant of HAVCR2 (Q8TDQ0)
D71N (p.Asp71Asn) 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 0.20 / 1. The record also includes population frequency data.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- ExAC rs755070324
- gnomAD rs755070324
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.12
- CADD 9.57
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)