A115V (p.Ala115Val) variant of CLN3 (Battenin)
A115V (p.Ala115Val) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A115V (p.Ala115Val) variant details
- p.Ala115Val
- TOPMed rs1269378570
- gnomAD rs1269378570
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available