L101P (p.Leu101Pro) variant of CLN3 (Battenin)
L101P (p.Leu101Pro) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L101P (p.Leu101Pro) variant details
- p.Leu101Pro
- rs386833714
- ClinGen CA263656
- ClinVar RCV000049675
- UniProt VAR 005131
- Likely pathogenic
- Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Neuronal ceroid lipofuscinosis 3)
- EBI: Pathogenic (in CLN3)
- UniProt: Pathogenic (in CLN3)
- Population evidence available
- Structural context available
- Cited in: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the… (PMID 21990111)
- Cited in: Spectrum of mutations in the Batten disease gene, CLN3. (PMID 9311735)