L83F (p.Leu83Phe) variant of IL10 (Interleukin-10)
L83F (p.Leu83Phe) in IL10 (Interleukin-10) is a missense change. Clinical records from ClinVar, EBI, 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 0.53 / 1. The record also includes population frequency data and structural context.
L83F (p.Leu83Phe) variant details
- p.Leu83Phe
- ExAC rs762750138
- gnomAD rs762750138
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.59
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available