I27V (p.Ile27Val) variant of LCK (Tyrosine-protein kinase Lck)
I27V (p.Ile27Val) in LCK (Tyrosine-protein kinase Lck) is a missense change. 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.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- ExAC rs748563929
- TOPMed rs748563929
- gnomAD rs748563929
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.13
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.193