L32V (p.Leu32Val) variant of RAG1 (P15918)
L32V (p.Leu32Val) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. 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.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- rs149364682
- ClinGen CA5949901
- ClinVar RCV000818000
- ESP rs149364682
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.34
- MetaLR 0.62
- MetaSVM 0.20
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available