L341P (p.Leu341Pro) variant of LCK (Tyrosine-protein kinase Lck)
L341P (p.Leu341Pro) in LCK (Tyrosine-protein kinase Lck) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe combined immunodeficiency due to LCK deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature.
L341P (p.Leu341Pro) variant details
- p.Leu341Pro
- rs587777335
- ClinGen CA151376
- ClinVar RCV000114989
- UniProt VAR 071291
- Pathogenic
- Severe combined immunodeficiency due to LCK deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.43
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.90
- ClinVar: Pathogenic (Severe combined immunodeficiency due to LCK deficiency)
- EBI: Pathogenic (in IMD22)
- UniProt: Pathogenic (in IMD22)
- Cited in: Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. (PMID 22985903)