N93D (p.Asn93Asp) variant of CLN3 (Battenin)
N93D (p.Asn93Asp) 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 0.62 / 1. The record also includes population frequency data and structural context.
N93D (p.Asn93Asp) variant details
- p.Asn93Asp
- ExAC rs761369095
- TOPMed rs761369095
- gnomAD rs761369095
- Uncertain significance
- not provided; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.01
- 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)
- Structural context available