H27Y (p.His27Tyr) variant of PRRT2 (Q7Z6L0)
H27Y (p.His27Tyr) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H27Y (p.His27Tyr) variant details
- p.His27Tyr
- gnomAD 16-29813133-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.07
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available