S472L (p.Ser472Leu) variant of TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2)
S472L (p.Ser472Leu) in TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S472L (p.Ser472Leu) variant details
- p.Ser472Leu
- rs367784420
- gnomAD 6-111566496-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.14
- CADD 23.80
- PolyPhen-2 0.22
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available