I174V (p.Ile174Val) variant of TRAF6 (TNF receptor-associated factor 6)
I174V (p.Ile174Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
I174V (p.Ile174Val) variant details
- p.Ile174Val
- rs762066204
- ClinGen CA5949776
- ClinVar RCV004471140
- ExAC rs762066204
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -1.06
- CADD 7.54
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available