P45L (p.Pro45Leu) variant of PRRT2 (Q7Z6L0)
P45L (p.Pro45Leu) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- gnomAD 16-29813188-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available