E129K (p.Glu129Lys) variant of PLAT (P00750)
E129K (p.Glu129Lys) in PLAT (P00750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E129K (p.Glu129Lys) variant details
- p.Glu129Lys
- rs887965470
- ClinGen CA175957939
- ClinVar RCV003488267
- Ensembl rs887965470
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.21
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00021)
- Structural context available