A47V (p.Ala47Val) variant of PRRT2 (Q7Z6L0)
A47V (p.Ala47Val) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- gnomAD 16-29813194-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.09
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available