M29I (p.Met29Ile) variant of SYNGAP1 (Q96PV0)
M29I (p.Met29Ile) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
M29I (p.Met29Ile) variant details
- p.Met29Ile
- gnomAD 6-33423496-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available