V53M (p.Val53Met) variant of CLN3 (Battenin)
V53M (p.Val53Met) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
V53M (p.Val53Met) variant details
- p.Val53Met
- ExAC rs750643595
- gnomAD rs750643595
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)