D13N (p.Asp13Asn) variant of CLN3 (Battenin)
D13N (p.Asp13Asn) in CLN3 (Battenin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
D13N (p.Asp13Asn) variant details
- p.Asp13Asn
- ExAC rs754562266
- TOPMed rs754562266
- gnomAD rs754562266
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)