S96A (p.Ser96Ala) variant of CLN3 (Battenin)
S96A (p.Ser96Ala) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
S96A (p.Ser96Ala) variant details
- p.Ser96Ala
- gnomAD rs1344068672
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 25.30
- Most common in the South Asian population (allele frequency 0.00021)