P25A (p.Pro25Ala) variant of PRRT2 (Q7Z6L0)
P25A (p.Pro25Ala) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- ESP rs371883992
- TOPMed rs371883992
- Missense
- Variant Prioritization Score for Impact Estimate 0.0905
- REVEL 0.05
- CADD 5.24
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available