L56V (p.Leu56Val) variant of CLN3 (Battenin)
L56V (p.Leu56Val) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- ExAC rs767513559
- gnomAD rs767513559
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)