A58V (p.Ala58Val) variant of LCK (Tyrosine-protein kinase Lck)
A58V (p.Ala58Val) in LCK (Tyrosine-protein kinase Lck) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Severe combined immunodeficiency due to LCK deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- rs568140101
- ClinGen CA741003
- ClinVar RCV002215416
- ClinVar RCV004711775
- Likely benign
- not provided; Severe combined immunodeficiency due to LCK deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.10
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Likely benign (not provided; Severe combined immunodeficiency due to LCK defici)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0098)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.536