C71G (p.Cys71Gly) variant of PLAT (P00750)
C71G (p.Cys71Gly) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C71G (p.Cys71Gly) variant details
- p.Cys71Gly
- gnomAD rs1243609576
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.88
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available