D12Y (p.Asp12Tyr) variant of LCK (Tyrosine-protein kinase Lck)
D12Y (p.Asp12Tyr) in LCK (Tyrosine-protein kinase Lck) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- gnomAD 1-32274363-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.20
- CADD 26.60
- PolyPhen-2 0.84
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.525
- Literature evidence available