I48I (p.Ile48Ile) variant of PLAU (P00749)
I48I (p.Ile48Ile) in PLAU (P00749) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I48I (p.Ile48Ile) variant details
- p.Ile48Ile
- rs1487852735
- gnomAD 10-73912273-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 7.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available