E42K (p.Glu42Lys) variant of CD8B (P10966)
E42K (p.Glu42Lys) in CD8B (P10966) 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 0.13 / 1. The record also includes population frequency data and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- rs753422558
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- ExAC rs753422558
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.06
- CADD 3.40
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available