F77L (p.Phe77Leu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
F77L (p.Phe77Leu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
F77L (p.Phe77Leu) variant details
- p.Phe77Leu
- rs2082695710
- ClinGen CA411281396
- cosmic curated COSV56704
- ClinVar RCV004371103
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 1.00
- MetaLR 0.27
- MetaSVM -0.69
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)