C5R (p.Cys5Arg) variant of LCK (Tyrosine-protein kinase Lck)
C5R (p.Cys5Arg) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C5R (p.Cys5Arg) variant details
- p.Cys5Arg
- gnomAD rs1257794961
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.29
- CADD 25.10
- PolyPhen-2 0.49
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- LCK SH3 domain domainome 1.0: score 0.0971