D100E (p.Asp100Glu) variant of TRAF6 (TNF receptor-associated factor 6)
D100E (p.Asp100Glu) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D100E (p.Asp100Glu) variant details
- p.Asp100Glu
- 1000Genomes rs2133673051
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.43
- MetaLR 0.20
- MetaSVM -0.94
- CADD 20.20
- PolyPhen-2 0.08
- SIFT 0.22
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available