A56S (p.Ala56Ser) variant of PRRT2 (Q7Z6L0)
A56S (p.Ala56Ser) 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, published literature, and structural context.
A56S (p.Ala56Ser) variant details
- p.Ala56Ser
- gnomAD 16-29813220-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.05
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available