G51C (p.Gly51Cys) variant of PRRT2 (Q7Z6L0)
G51C (p.Gly51Cys) 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 and structural context.
G51C (p.Gly51Cys) variant details
- p.Gly51Cys
- ExAC rs751112065
- gnomAD rs751112065
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.13
- CADD 23.50
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available