L422P (p.Leu422Pro) variant of CLN3 (Battenin)
L422P (p.Leu422Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L422P (p.Leu422Pro) variant details
- p.Leu422Pro
- rs2046014482
- ClinGen CA395341887
- ClinVar RCV001298416
- Ensembl rs2046014482
- Likely pathogenic
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Neuronal ceroid lipofuscinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)