F19L (p.Phe19Leu) variant of PLAT (P00750)
F19L (p.Phe19Leu) in PLAT (P00750) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- NCI-TCGA Cosmic COSV5427
- cosmic curated COSV54278
- ESP rs141964626
- ExAC rs141964626
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.31
- CADD 8.43
- PolyPhen-2 0.00
- SIFT 0.73
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available