H74Y (p.His74Tyr) variant of CLN3 (Battenin)
H74Y (p.His74Tyr) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
H74Y (p.His74Tyr) variant details
- p.His74Tyr
- ExAC rs745941670
- gnomAD rs745941670
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 26.80
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)