S34I (p.Ser34Ile) variant of REL (Proto-oncogene c-Rel)
S34I (p.Ser34Ile) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S34I (p.Ser34Ile) variant details
- p.Ser34Ile
- rs780257327
- gnomAD 2-60891773-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.75
- MetaLR 0.46
- MetaSVM 0.10
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available