D2N (p.Asp2Asn) variant of PLAT (P00750)
D2N (p.Asp2Asn) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- TOPMed rs1486658996
- gnomAD rs1486658996
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.32
- CADD 0.38
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available