S54C (p.Ser54Cys) variant of LCK (Tyrosine-protein kinase Lck)
S54C (p.Ser54Cys) in LCK (Tyrosine-protein kinase Lck) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Severe combined immunodeficiency due to LCK deficiency; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- rs147431889
- ClinGen CA740998
- cosmic curated COSV10741
- ClinVar RCV000652175
- Benign/Likely benign
- not specified; Severe combined immunodeficiency due to LCK deficiency; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.03
- CADD 11.60
- PolyPhen-2 0.21
- SIFT 0.05
- ClinVar: Benign/Likely benign (not specified; Severe combined immunodeficiency due to LCK defic)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.826