V30I (p.Val30Ile) variant of TRAF6 (TNF receptor-associated factor 6)
V30I (p.Val30Ile) in TRAF6 (TNF receptor-associated factor 6) is a missense change. Clinical records from ClinVar, EBI, 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 0.13 / 1. The record also includes population frequency data and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- cosmic curated COSV61923
- TOPMed rs1418393714
- gnomAD rs1418393714
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.08
- MetaLR 0.20
- MetaSVM -0.96
- CADD 6.42
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available