A4V (p.Ala4Val) variant of NF2 (Merlin)
A4V (p.Ala4Val) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 22-29604009-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available