L48V (p.Leu48Val) variant of LCK (Tyrosine-protein kinase Lck)
L48V (p.Leu48Val) 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 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- rs771590192
- ClinGen CA740995
- ClinVar RCV002632343
- ClinVar RCV004069042
- Uncertain significance
- Severe combined immunodeficiency due to LCK deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.10
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to LCK deficiency; not spec)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available
- LCK SH3 domain domainome 1.0: score 0.0011