N44S (p.Asn44Ser) variant of TRAF6 (TNF receptor-associated factor 6)
N44S (p.Asn44Ser) 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 0.21 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- rs1031359230
- ClinGen CA220595386
- ClinVar RCV004099960
- TOPMed rs1031359230
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.20
- MetaLR 0.32
- MetaSVM -0.83
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 1.00
- 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