N40S (p.Asn40Ser) variant of LCK (Tyrosine-protein kinase Lck)
N40S (p.Asn40Ser) 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 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N40S (p.Asn40Ser) variant details
- p.Asn40Ser
- rs752991931
- ClinGen CA740988
- ClinVar RCV002028260
- ClinVar RCV005592364
- Uncertain significance
- Severe combined immunodeficiency due to LCK deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.04
- CADD 15.70
- PolyPhen-2 0.00
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.862