V18A (p.Val18Ala) variant of PLAT (P00750)
V18A (p.Val18Ala) 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.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- ExAC rs745384030
- TOPMed rs745384030
- gnomAD rs745384030
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.28
- CADD 1.65
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available