L27V (p.Leu27Val) variant of CLN3 (Battenin)
L27V (p.Leu27Val) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- TOPMed rs2046313835
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 9.54
- PolyPhen-2 0.04
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)