L113W (p.Leu113Trp) variant of CLN3 (Battenin)
L113W (p.Leu113Trp) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L113W (p.Leu113Trp) variant details
- p.Leu113Trp
- ExAC rs778765250
- gnomAD rs778765250
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 24.90
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available