A30V (p.Ala30Val) variant of PRRT2 (Q7Z6L0)
A30V (p.Ala30Val) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD rs1277397064
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.05
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available