S111R (p.Ser111Arg) variant of CD8B (P10966)
S111R (p.Ser111Arg) 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 0.62 / 1. The record also includes population frequency data and structural context.
S111R (p.Ser111Arg) variant details
- p.Ser111Arg
- rs1676370602
- ClinGen CA347580766
- ClinVar RCV004435574
- Ensembl rs1676370602
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.64
- MetaLR 0.56
- MetaSVM 0.21
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available