F80V (p.Phe80Val) variant of RAG2 (P55895)
F80V (p.Phe80Val) in RAG2 (P55895) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F80V (p.Phe80Val) variant details
- p.Phe80Val
- ExAC rs762369105
- gnomAD rs762369105
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.37
- CADD 16.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available