Q31R (p.Gln31Arg) variant of CLN3 (Battenin)
Q31R (p.Gln31Arg) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
Q31R (p.Gln31Arg) variant details
- p.Gln31Arg
- TOPMed rs1331250366
- gnomAD rs1331250366
- Missense
- Variant Prioritization Score for Impact Estimate 0.065
- CADD 0.26
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)