E44K (p.Glu44Lys) variant of PLAT (P00750)
E44K (p.Glu44Lys) in PLAT (P00750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs757271387
- ClinGen CA4731443
- ClinVar RCV004224955
- ExAC rs757271387
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.17
- CADD 18.40
- PolyPhen-2 0.08
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available