A45S (p.Ala45Ser) variant of RAG1 (P15918)
A45S (p.Ala45Ser) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- TOPMed rs1421811091
- gnomAD rs1421811091
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -0.99
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available