F90L (p.Phe90Leu) variant of CLN3 (Battenin)
F90L (p.Phe90Leu) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- rs145520962
- ClinGen CA245999
- cosmic curated COSV61108
- ClinVar RCV000178825
- Uncertain significance
- Inborn genetic diseases; not provided; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 22.10
- PolyPhen-2 0.11
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Neuronal ceroid lipofusci)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- 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)