A58V (p.Ala58Val) variant of CLN3 (Battenin)
A58V (p.Ala58Val) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- cosmic curated COSV10034
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available