N93H (p.Asn93His) variant of CLN3 (Battenin)
N93H (p.Asn93His) 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 0.60 / 1. The record also includes population frequency data and structural context.
N93H (p.Asn93His) variant details
- p.Asn93His
- ExAC rs761369095
- TOPMed rs761369095
- gnomAD rs761369095
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 24.60
- PolyPhen-2 0.77
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available