V30L (p.Val30Leu) variant of TRAF6 (TNF receptor-associated factor 6)
V30L (p.Val30Leu) in TRAF6 (TNF receptor-associated factor 6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- TOPMed rs1418393714
- gnomAD rs1418393714
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.10
- MetaLR 0.19
- MetaSVM -0.98
- CADD 5.54
- PolyPhen-2 0.00
- SIFT 0.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available