K45N (p.Lys45Asn) variant of PLAT (P00750)
K45N (p.Lys45Asn) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
K45N (p.Lys45Asn) variant details
- p.Lys45Asn
- TOPMed rs1203524924
- gnomAD rs1203524924
- Missense
- Variant Prioritization Score for Impact Estimate 0.0988
- REVEL 0.09
- CADD 8.15
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available