S88T (p.Ser88Thr) variant of CLN3 (Battenin)
S88T (p.Ser88Thr) 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.
S88T (p.Ser88Thr) variant details
- p.Ser88Thr
- ExAC rs754801166
- gnomAD rs754801166
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available