P23S (p.Pro23Ser) variant of CLN3 (Battenin)
P23S (p.Pro23Ser) 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 0.27 / 1. The record also includes population frequency data and published literature.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs757558651
- ClinGen CA7981084
- ClinVar RCV000467562
- ExAC rs757558651
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 8.81
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)