P42A (p.Pro42Ala) variant of PRRT2 (Q7Z6L0)
P42A (p.Pro42Ala) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- gnomAD 16-29813178-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.03
- CADD 0.47
- PolyPhen-2 0.06
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available