S403L (p.Ser403Leu) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
S403L (p.Ser403Leu) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S403L (p.Ser403Leu) variant details
- p.Ser403Leu
- rs1419307347
- gnomAD 6-111572962-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.59
- AlphaMissense 0.99
- MetaLR 0.19
- MetaSVM -0.79
- CADD 29.30
- PolyPhen-2 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available