N121S (p.Asn121Ser) variant of TRAF6 (TNF receptor-associated factor 6)
N121S (p.Asn121Ser) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
N121S (p.Asn121Ser) variant details
- p.Asn121Ser
- cosmic curated COSV61922
- ExAC rs748164490
- TOPMed rs748164490
- gnomAD rs748164490
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.41
- MetaLR 0.50
- MetaSVM -0.16
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available