S40F (p.Ser40Phe) variant of CD8B (P10966)
S40F (p.Ser40Phe) in CD8B (P10966) 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 0.23 / 1. The record also includes population frequency data and structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- ESP rs371965937
- ExAC rs371965937
- TOPMed rs371965937
- gnomAD rs371965937
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.22
- MetaLR 0.45
- MetaSVM -0.65
- CADD 11.00
- PolyPhen-2 0.82
- SIFT 0.47
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available