M117T (p.Met117Thr) variant of CD8B (P10966)
M117T (p.Met117Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
M117T (p.Met117Thr) variant details
- p.Met117Thr
- rs759614077
- ClinGen CA1751555
- ClinVar RCV004149903
- ExAC rs759614077
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- MetaLR 0.14
- MetaSVM -0.99
- CADD 13.40
- PolyPhen-2 0.21
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available