G24R (p.Gly24Arg) variant of PRRT2 (Q7Z6L0)
G24R (p.Gly24Arg) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- gnomAD 16-29813124-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available