L22I (p.Leu22Ile) variant of CD80 (P33681)
L22I (p.Leu22Ile) in CD80 (P33681) 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 0.16 / 1. The record also includes population frequency data and structural context.
L22I (p.Leu22Ile) variant details
- p.Leu22Ile
- 1000Genomes rs151042794
- ESP rs151042794
- ExAC rs151042794
- TOPMed rs151042794
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.08
- CADD 15.40
- PolyPhen-2 0.97
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available