L159F (p.Leu159Phe) variant of TRAF6 (TNF receptor-associated factor 6)
L159F (p.Leu159Phe) 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 0.31 / 1. The record also includes population frequency data and structural context.
L159F (p.Leu159Phe) variant details
- p.Leu159Phe
- ExAC rs759073172
- TOPMed rs759073172
- gnomAD rs759073172
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -0.94
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.76
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available