A14S (p.Ala14Ser) variant of RAG1 (P15918)
A14S (p.Ala14Ser) in RAG1 (P15918) 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 0.23 / 1. The record also includes population frequency data and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- ExAC rs765396585
- TOPMed rs765396585
- gnomAD rs765396585
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.12
- MetaLR 0.24
- MetaSVM -0.76
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available