A125D (p.Ala125Asp) variant of PLAT (P00750)
A125D (p.Ala125Asp) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A125D (p.Ala125Asp) variant details
- p.Ala125Asp
- gnomAD rs1424113144
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- CADD 16.30
- PolyPhen-2 0.15
- SIFT 0.14
- Population evidence available
- Structural context available