L101V (p.Leu101Val) variant of PLAT (P00750)
L101V (p.Leu101Val) in PLAT (P00750) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L101V (p.Leu101Val) variant details
- p.Leu101Val
- TOPMed rs1325440261
- gnomAD rs1325440261
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.25
- CADD 2.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available