V95I (p.Val95Ile) variant of CLN3 (Battenin)
V95I (p.Val95Ile) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
V95I (p.Val95Ile) variant details
- p.Val95Ile
- ExAC rs763659524
- TOPMed rs763659524
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.36
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)