K112R (p.Lys112Arg) variant of CLN3 (Battenin)
K112R (p.Lys112Arg) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K112R (p.Lys112Arg) variant details
- p.Lys112Arg
- ExAC rs771758062
- gnomAD rs771758062
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00021)
- Structural context available