H65R (p.His65Arg) variant of CLN3 (Battenin)
H65R (p.His65Arg) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
H65R (p.His65Arg) variant details
- p.His65Arg
- gnomAD rs574261896
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 17.00
- PolyPhen-2 0.08
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)