L431S (p.Leu431Ser) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
L431S (p.Leu431Ser) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L431S (p.Leu431Ser) variant details
- p.Leu431Ser
- rs1283590811
- gnomAD 6-111572917-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.17
- AlphaMissense 0.32
- MetaLR 0.01
- MetaSVM -1.00
- CADD 22.70
- PolyPhen-2 0.04
- Population evidence available
- Structural context available
- Literature evidence available