F11S (p.Phe11Ser) variant of CLN3 (Battenin)
F11S (p.Phe11Ser) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis 3; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
F11S (p.Phe11Ser) variant details
- p.Phe11Ser
- rs752205710
- ClinGen CA7981125
- ClinVar RCV000479351
- ClinVar RCV001345690
- Uncertain significance
- Neuronal ceroid lipofuscinosis 3; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 3; Inborn genetic diseases; not p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)