M5R (p.Met5Arg) variant of RAG2 (P55895)
M5R (p.Met5Arg) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M5R (p.Met5Arg) variant details
- p.Met5Arg
- cosmic curated COSV57559
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.59
- CADD 24.90
- PolyPhen-2 0.59
- SIFT 0.04
- 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 -0.554