M6K (p.Met6Lys) variant of TNF (Tumor necrosis factor)
M6K (p.Met6Lys) in TNF (Tumor necrosis factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Migraine with or without aura, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
M6K (p.Met6Lys) variant details
- p.Met6Lys
- rs2150388461
- Ensembl rs2150388461
- ClinGen CA363342812
- ClinVar RCV002267699
- Uncertain significance
- Migraine with or without aura, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.58
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Migraine with or without aura, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available