R10H (p.Arg10His) variant of CLN3 (Battenin)
R10H (p.Arg10His) 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 0.35 / 1. The record also includes population frequency data and published literature.
R10H (p.Arg10His) variant details
- p.Arg10His
- rs2046318806
- ClinGen CA395347535
- ClinVar RCV002584016
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)