M29T (p.Met29Thr) variant of NF2 (Merlin)
M29T (p.Met29Thr) in NF2 (Merlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M29T (p.Met29Thr) variant details
- p.Met29Thr
- gnomAD 22-29604084-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.74
- CADD 24.50
- PolyPhen-2 0.24
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available