S40P (p.Ser40Pro) variant of RAG2 (P55895)
S40P (p.Ser40Pro) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S40P (p.Ser40Pro) variant details
- p.Ser40Pro
- gnomAD 11-36594051-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.90
- CADD 25.00
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.85
- Literature evidence available