V39A (p.Val39Ala) variant of CLN3 (Battenin)
V39A (p.Val39Ala) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- ExAC rs760656860
- TOPMed rs760656860
- gnomAD rs760656860
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the East Asian population (allele frequency 0.00019)