P107R (p.Pro107Arg) variant of CLN3 (Battenin)
P107R (p.Pro107Arg) 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 0.90 / 1. The record also includes published literature.
P107R (p.Pro107Arg) variant details
- p.Pro107Arg
- rs1231056238
- ClinGen CA395346114
- ClinVar RCV003045484
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)