L5M (p.Leu5Met) variant of CD8B (P10966)
L5M (p.Leu5Met) 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 0.14 / 1. The record also includes population frequency data and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD rs1676621266
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.06
- CADD 10.60
- PolyPhen-2 0.04
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available