G78D (p.Gly78Asp) variant of CLN3 (Battenin)
G78D (p.Gly78Asp) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
G78D (p.Gly78Asp) variant details
- p.Gly78Asp
- ExAC rs768993577
- TOPMed rs768993577
- gnomAD rs768993577
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 1.33
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)