P21L (p.Pro21Leu) variant of RAG1 (P15918)
P21L (p.Pro21Leu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD rs1451044368
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.36
- MetaLR 0.41
- MetaSVM -0.18
- CADD 23.00
- PolyPhen-2 0.36
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available