D13Y (p.Asp13Tyr) variant of CLN3 (Battenin)
D13Y (p.Asp13Tyr) 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 0.53 / 1. The record also includes population frequency data and published literature.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- rs754562266
- ClinGen CA7981123
- ClinVar RCV003058685
- ExAC rs754562266
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 25.50
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)