P79S (p.Pro79Ser) variant of CLN3 (Battenin)
P79S (p.Pro79Ser) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
P79S (p.Pro79Ser) variant details
- p.Pro79Ser
- gnomAD rs2046263535
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 22.50
- PolyPhen-2 0.82
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)