P107S (p.Pro107Ser) variant of CLN3 (Battenin)
P107S (p.Pro107Ser) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
P107S (p.Pro107Ser) variant details
- p.Pro107Ser
- rs149095062
- ClinGen CA7980973
- cosmic curated COSV10465
- ClinVar RCV000500791
- Uncertain significance
- Neuronal ceroid lipofuscinosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)