S88A (p.Ser88Ala) variant of CLN3 (Battenin)
S88A (p.Ser88Ala) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S88A (p.Ser88Ala) variant details
- p.Ser88Ala
- ExAC rs754801166
- gnomAD rs754801166
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available