P107L (p.Pro107Leu) variant of CLN3 (Battenin)
P107L (p.Pro107Leu) 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 0.81 / 1. The record also includes population frequency data and published literature.
P107L (p.Pro107Leu) variant details
- p.Pro107Leu
- rs1231056238
- ClinGen CA395346113
- ClinVar RCV001236359
- gnomAD rs1231056238
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)