D49A (p.Asp49Ala) variant of RAG2 (P55895)
D49A (p.Asp49Ala) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D49A (p.Asp49Ala) variant details
- p.Asp49Ala
- cosmic curated COSV57558
- ESP rs370447243
- ExAC rs370447243
- TOPMed rs370447243
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.127