P21R (p.Pro21Arg) variant of CLN3 (Battenin)
P21R (p.Pro21Arg) 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.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- rs562525993
- ClinGen CA7981086
- ClinVar RCV002580284
- 1000Genomes rs562525993
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 9.75
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)