T21M (p.Thr21Met) variant of NF2 (Merlin)
T21M (p.Thr21Met) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T21M (p.Thr21Met) variant details
- p.Thr21Met
- gnomAD rs1316115546
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.28
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available