I62V (p.Ile62Val) variant of CLN3 (Battenin)
I62V (p.Ile62Val) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- TOPMed rs1567262947
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 3.3e-05)