K42N (p.Lys42Asn) variant of TRAF3 (TNF receptor-associated factor 3)
K42N (p.Lys42Asn) in TRAF3 (TNF receptor-associated factor 3) 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 0.23 / 1. The record also includes population frequency data and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- rs751980343
- ClinGen CA7359158
- ClinVar RCV004357274
- ExAC rs751980343
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.10
- MetaLR 0.17
- MetaSVM -0.99
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available