K12M (p.Lys12Met) variant of PRRT2 (Q7Z6L0)
K12M (p.Lys12Met) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K12M (p.Lys12Met) variant details
- p.Lys12Met
- gnomAD 16-29813089-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.29
- CADD 24.10
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available