A3V (p.Ala3Val) variant of PRRT2 (Q7Z6L0)
A3V (p.Ala3Val) 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.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- cosmic curated COSV54882
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available