R45Q (p.Arg45Gln) variant of LCK (Tyrosine-protein kinase Lck)
R45Q (p.Arg45Gln) in LCK (Tyrosine-protein kinase Lck) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Severe combined immunodeficiency due to LCK deficiency; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs145088108
- ClinGen CA740992
- ClinVar RCV000547015
- ClinVar RCV001675930
- Benign/Likely benign
- not specified; Severe combined immunodeficiency due to LCK deficiency; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.09
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Benign/Likely benign (not specified; Severe combined immunodeficiency due to LCK defic)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:KARITIANA population (allele frequency 0.75)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.357