F49L (p.Phe49Leu) variant of TRAF6 (TNF receptor-associated factor 6)
F49L (p.Phe49Leu) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- gnomAD rs1311497253
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.18
- MetaLR 0.32
- MetaSVM -0.57
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available