M50T (p.Met50Thr) variant of TRAF6 (TNF receptor-associated factor 6)
M50T (p.Met50Thr) in TRAF6 (TNF receptor-associated factor 6) 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 0.30 / 1. The record also includes population frequency data and structural context.
M50T (p.Met50Thr) variant details
- p.Met50Thr
- ExAC rs766198008
- TOPMed rs766198008
- gnomAD rs766198008
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.17
- MetaLR 0.26
- MetaSVM -0.92
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available