I133V (p.Ile133Val) variant of PLAT (P00750)
I133V (p.Ile133Val) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
I133V (p.Ile133Val) variant details
- p.Ile133Val
- Ensembl rs1805530557
- Missense
- Variant Prioritization Score for Impact Estimate 0.0514
- REVEL 0.04
- CADD 1.10
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available