L119F (p.Leu119Phe) variant of CLN3 (Battenin)
L119F (p.Leu119Phe) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L119F (p.Leu119Phe) variant details
- p.Leu119Phe
- gnomAD rs1442290418
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available