N44S (p.Asn44Ser) variant of REL (Proto-oncogene c-Rel)
N44S (p.Asn44Ser) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- rs1414774075
- gnomAD 2-60891803-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.09
- MetaLR 0.10
- MetaSVM -1.06
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available