A2T (p.Ala2Thr) variant of NF2 (Merlin)
A2T (p.Ala2Thr) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 22-29604002-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.45
- CADD 29.30
- PolyPhen-2 0.81
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available