D122H (p.Asp122His) variant of PLAT (P00750)
D122H (p.Asp122His) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D122H (p.Asp122His) variant details
- p.Asp122His
- ExAC rs780540773
- TOPMed rs780540773
- gnomAD rs780540773
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.51
- CADD 35.00
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available