G3V (p.Gly3Val) variant of NF2 (Merlin)
G3V (p.Gly3Val) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- gnomAD 22-29604006-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.53
- CADD 24.90
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available