T21K (p.Thr21Lys) variant of NF2 (Merlin)
T21K (p.Thr21Lys) 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, published literature, and structural context.
T21K (p.Thr21Lys) variant details
- p.Thr21Lys
- gnomAD 22-29604060-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.53
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available