D43Y (p.Asp43Tyr) variant of PRRT2 (Q7Z6L0)
D43Y (p.Asp43Tyr) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- gnomAD 16-29813181-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available