M160T (p.Met160Thr) variant of TRAF6 (TNF receptor-associated factor 6)
M160T (p.Met160Thr) in TRAF6 (TNF receptor-associated factor 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of TRAF6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M160T (p.Met160Thr) variant details
- p.Met160Thr
- rs145863131
- ClinGen CA5949781
- cosmic curated COSV10526
- ClinVar RCV003949230
- Likely benign
- TRAF6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.01
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Likely benign (TRAF6-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PATHAN population (allele frequency 0.042)
- Structural context available