T23N (p.Thr23Asn) variant of NF2 (Merlin)
T23N (p.Thr23Asn) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T23N (p.Thr23Asn) variant details
- p.Thr23Asn
- gnomAD 22-29604066-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.16
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available