D29E (p.Asp29Glu) variant of CLN3 (Battenin)
D29E (p.Asp29Glu) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- rs1131691496
- ClinGen CA395347058
- ClinVar RCV000493571
- ClinVar RCV002298623
- Uncertain significance
- not provided; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)