Q72L (p.Gln72Leu) variant of CLN3 (Battenin)
Q72L (p.Gln72Leu) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
Q72L (p.Gln72Leu) variant details
- p.Gln72Leu
- ExAC rs780482162
- gnomAD rs780482162
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 20.80
- PolyPhen-2 0.23
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)