P6S (p.Pro6Ser) variant of RAG1 (P15918)
P6S (p.Pro6Ser) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- TOPMed rs1422281887
- gnomAD rs1422281887
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -0.89
- CADD 9.46
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available