S4G (p.Ser4Gly) variant of PRRT2 (Q7Z6L0)
S4G (p.Ser4Gly) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- gnomAD rs1257121924
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.09
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available