A33G (p.Ala33Gly) variant of CLN3 (Battenin)
A33G (p.Ala33Gly) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A33G (p.Ala33Gly) variant details
- p.Ala33Gly
- gnomAD rs1227931688
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the East Asian population (allele frequency 0.00019)