P71S (p.Pro71Ser) variant of RAG2 (P55895)
P71S (p.Pro71Ser) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- gnomAD 11-36593958-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.96
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score 0.124
- Literature evidence available