V107M (p.Val107Met) variant of PLAT (P00750)
V107M (p.Val107Met) in PLAT (P00750) is a missense change. Clinical records from ClinVar, EBI, 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 0.52 / 1. The record also includes population frequency data and structural context.
V107M (p.Val107Met) variant details
- p.Val107Met
- rs778893632
- ClinGen CA4731407
- ClinVar RCV004511672
- ExAC rs778893632
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.40
- CADD 24.90
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available