P83L (p.Pro83Leu) variant of CLN3 (Battenin)
P83L (p.Pro83Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
P83L (p.Pro83Leu) variant details
- p.Pro83Leu
- rs749503213
- ClinGen CA7981004
- cosmic curated COSV10647
- ClinVar RCV002761108
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 19.80
- PolyPhen-2 0.17
- SIFT 0.13
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)