P42P (p.Pro42Pro) variant of RAG2 (P55895)
P42P (p.Pro42Pro) in RAG2 (P55895) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P42P (p.Pro42Pro) variant details
- p.Pro42Pro
- gnomAD 11-36594043-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 6.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.626
- Literature evidence available