P8L (p.Pro8Leu) variant of REL (Proto-oncogene c-Rel)
P8L (p.Pro8Leu) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs776656350
- gnomAD 2-60891695-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.55
- MetaLR 0.63
- MetaSVM 0.40
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available