S54A (p.Ser54Ala) variant of LCK (Tyrosine-protein kinase Lck)
S54A (p.Ser54Ala) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S54A (p.Ser54Ala) variant details
- p.Ser54Ala
- rs540222297
- ClinGen CA740997
- ClinVar RCV001042876
- 1000Genomes rs540222297
- Uncertain significance
- Severe combined immunodeficiency due to LCK deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.05
- CADD 8.93
- PolyPhen-2 0.01
- SIFT 0.78
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to LCK deficiency; not spec)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.826