P440S (p.Pro440Ser) variant of LCK (Tyrosine-protein kinase Lck)
P440S (p.Pro440Ser) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P440S (p.Pro440Ser) variant details
- p.Pro440Ser
- rs1318678254
- ClinGen CA339643037
- NCI-TCGA Cosmic COSV6074
- cosmic curated COSV60742
- Pathogenic
- Severe combined immunodeficiency due to LCK deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.91
- CADD 26.10
- ClinVar: Pathogenic (Severe combined immunodeficiency due to LCK deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation. (PMID 37962568)