S57G (p.Ser57Gly) variant of CLN3 (Battenin)
S57G (p.Ser57Gly) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S57G (p.Ser57Gly) variant details
- p.Ser57Gly
- TOPMed rs951644149
- gnomAD rs951644149
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available