V95L (p.Val95Leu) variant of CLN3 (Battenin)
V95L (p.Val95Leu) in CLN3 (Battenin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
V95L (p.Val95Leu) variant details
- p.Val95Leu
- ExAC rs763659524
- TOPMed rs763659524
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)