S35N (p.Ser35Asn) variant of TRAF6 (TNF receptor-associated factor 6)
S35N (p.Ser35Asn) in TRAF6 (TNF receptor-associated factor 6) is a missense change. Clinical records from ClinVar 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 0.50 / 1. The record also includes population frequency data and structural context.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- ExAC rs758804620
- TOPMed rs758804620
- gnomAD rs758804620
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.42
- MetaLR 0.54
- MetaSVM -0.04
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available