C5W (p.Cys5Trp) variant of LCK (Tyrosine-protein kinase Lck)
C5W (p.Cys5Trp) in LCK (Tyrosine-protein kinase Lck) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to LCK deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C5W (p.Cys5Trp) variant details
- p.Cys5Trp
- rs1486428010
- ClinGen CA339633907
- ClinVar RCV002040857
- gnomAD rs1486428010
- Uncertain significance
- Severe combined immunodeficiency due to LCK deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.23
- CADD 27.60
- PolyPhen-2 0.84
- SIFT 0.03
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to LCK deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LCK SH3 domain domainome 1.0: score 0.0971