R24W (p.Arg24Trp) variant of CLN3 (Battenin)
R24W (p.Arg24Trp) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- TOPMed rs1383936390
- gnomAD rs1383936390
- Uncertain significance
- Inborn genetic diseases; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)