A31T (p.Ala31Thr) variant of NF2 (Merlin)
A31T (p.Ala31Thr) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- Ensembl rs2064717672
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.51
- CADD 26.20
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available