P50A (p.Pro50Ala) variant of PRRT2 (Q7Z6L0)
P50A (p.Pro50Ala) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P50A (p.Pro50Ala) variant details
- p.Pro50Ala
- ExAC rs779469716
- gnomAD rs779469716
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.04
- CADD 9.11
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available