A47T (p.Ala47Thr) variant of PRRT2 (Q7Z6L0)
A47T (p.Ala47Thr) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- gnomAD 16-29813193-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.04
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available