L117F (p.Leu117Phe) variant of CLN3 (Battenin)
L117F (p.Leu117Phe) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
L117F (p.Leu117Phe) variant details
- p.Leu117Phe
- Ensembl rs2141715063
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:TU population (allele frequency 0.05)