S58P (p.Ser58Pro) variant of RAG1 (P15918)
S58P (p.Ser58Pro) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S58P (p.Ser58Pro) variant details
- p.Ser58Pro
- ExAC rs761039913
- gnomAD rs761039913
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.90
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available