S52F (p.Ser52Phe) variant of RAG1 (P15918)
S52F (p.Ser52Phe) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- gnomAD rs1486819488
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.19
- MetaLR 0.33
- MetaSVM -0.64
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available