T21S (p.Thr21Ser) variant of NF2 (Merlin)
T21S (p.Thr21Ser) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T21S (p.Thr21Ser) variant details
- p.Thr21Ser
- gnomAD 22-29604059-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.25
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available