G51A (p.Gly51Ala) variant of PRRT2 (Q7Z6L0)
G51A (p.Gly51Ala) 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 and structural context.
G51A (p.Gly51Ala) variant details
- p.Gly51Ala
- gnomAD rs1474045415
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.08
- CADD 8.99
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available