E17V (p.Glu17Val) variant of CLN3 (Battenin)
E17V (p.Glu17Val) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
E17V (p.Glu17Val) variant details
- p.Glu17Val
- Ensembl rs2046314521
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 26.10
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)