P47A (p.Pro47Ala) variant of LCK (Tyrosine-protein kinase Lck)
P47A (p.Pro47Ala) in LCK (Tyrosine-protein kinase Lck) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P47A (p.Pro47Ala) variant details
- p.Pro47Ala
- ExAC rs778252394
- gnomAD rs778252394
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.10
- CADD 22.10
- PolyPhen-2 0.29
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.836