P21L (p.Pro21Leu) variant of CLN3 (Battenin)
P21L (p.Pro21Leu) 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 0.49 / 1. The record also includes population frequency data and published literature.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- rs562525993
- ClinGen CA7981085
- ClinVar RCV001227479
- 1000Genomes rs562525993
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)