P37S (p.Pro37Ser) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
P37S (p.Pro37Ser) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Candidiasis, familial, 8; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- NCI-TCGA Cosmic COSV6067
- cosmic curated COSV60677
- Uncertain significance
- Candidiasis, familial, 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- CADD 21.40
- PolyPhen-2 0.16
- SIFT 0.02
- ClinVar: Uncertain significance (Candidiasis, familial, 8; not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00018)
- Structural context available