Q72H (p.Gln72His) variant of CLN3 (Battenin)
Q72H (p.Gln72His) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
Q72H (p.Gln72His) variant details
- p.Gln72His
- ExAC rs758501983
- TOPMed rs758501983
- gnomAD rs758501983
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)