A2S (p.Ala2Ser) variant of REL (Proto-oncogene c-Rel)
A2S (p.Ala2Ser) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs1672944674
- gnomAD 2-60881844-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.02
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available