S12L (p.Ser12Leu) variant of CLN3 (Battenin)
S12L (p.Ser12Leu) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- cosmic curated COSV10011
- gnomAD rs1218301566
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)