A33V (p.Ala33Val) variant of CLN3 (Battenin)
A33V (p.Ala33Val) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- gnomAD rs1227931688
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)