K51R (p.Lys51Arg) variant of RAG2 (P55895)
K51R (p.Lys51Arg) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- gnomAD 11-36594017-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.70
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.0676
- Literature evidence available