V66A (p.Val66Ala) variant of PLAT (P00750)
V66A (p.Val66Ala) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V66A (p.Val66Ala) variant details
- p.Val66Ala
- TOPMed rs1266456794
- gnomAD rs1266456794
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.30
- CADD 22.50
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available