M58I (p.Met58Ile) variant of SYNGAP1 (Q96PV0)
M58I (p.Met58Ile) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M58I (p.Met58Ile) variant details
- p.Met58Ile
- gnomAD 6-33423583-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- MetaLR 0.02
- MetaSVM -1.04
- CADD 21.50
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available