G51D (p.Gly51Asp) variant of PRRT2 (Q7Z6L0)
G51D (p.Gly51Asp) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- gnomAD 16-29813206-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.09
- CADD 9.98
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available