P17A (p.Pro17Ala) variant of RAG2 (P55895)
P17A (p.Pro17Ala) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- TOPMed rs1851107367
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.70
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.06
- 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 -0.117