I17V (p.Ile17Val) variant of LCK (Tyrosine-protein kinase Lck)
I17V (p.Ile17Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- rs1422197069
- ClinGen CA339634168
- ClinVar RCV001899300
- gnomAD rs1422197069
- Uncertain significance
- Severe combined immunodeficiency due to LCK deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.06
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to LCK deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LCK SH3 domain domainome 1.0: score 0.228