V41L (p.Val41Leu) variant of PRRT2 (Q7Z6L0)
V41L (p.Val41Leu) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- gnomAD 16-29813175-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available