H74R (p.His74Arg) variant of CLN3 (Battenin)
H74R (p.His74Arg) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
H74R (p.His74Arg) variant details
- p.His74Arg
- TOPMed rs1180074704
- gnomAD rs1180074704
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 3e-05)