P21S (p.Pro21Ser) variant of RAG1 (P15918)
P21S (p.Pro21Ser) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- TOPMed rs1207354466
- gnomAD rs1207354466
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.46
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available