R65W (p.Arg65Trp) variant of PLAT (P00750)
R65W (p.Arg65Trp) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R65W (p.Arg65Trp) variant details
- p.Arg65Trp
- cosmic curated COSV54274
- ExAC rs776401170
- gnomAD rs776401170
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.36
- CADD 24.60
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available