D61N (p.Asp61Asn) variant of CLN3 (Battenin)
D61N (p.Asp61Asn) 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 0.74 / 1. The record also includes population frequency data and published literature.
D61N (p.Asp61Asn) variant details
- p.Asp61Asn
- rs772851701
- ClinGen CA7981032
- cosmic curated COSV61107
- ClinVar RCV001952199
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)