E86K (p.Glu86Lys) variant of CD80 (P33681)
E86K (p.Glu86Lys) in CD80 (P33681) is a missense change. Clinical records from ClinVar, EBI, 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 0.07 / 1. The record also includes population frequency data and structural context.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- cosmic curated COSV51801
- ESP rs368745104
- ExAC rs368745104
- TOPMed rs368745104
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0735
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.01
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available