A38T (p.Ala38Thr) variant of CLN3 (Battenin)
A38T (p.Ala38Thr) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- 1000Genomes rs565082957
- ExAC rs565082957
- gnomAD rs565082957
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 19.30
- Most common in the 1KG:ESN population (allele frequency 0.0049)