P81L (p.Pro81Leu) variant of CLN3 (Battenin)
P81L (p.Pro81Leu) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- rs137906617
- ClinGen CA313772
- ClinVar RCV000725785
- ClinVar RCV000791120
- Conflicting interpretations
- Inborn genetic diseases; not provided; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 18.00
- PolyPhen-2 0.57
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Neuronal ceroid lipofusci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.017)
- 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)