M29V (p.Met29Val) variant of SYNGAP1 (Q96PV0)
M29V (p.Met29Val) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M29V (p.Met29Val) variant details
- p.Met29Val
- gnomAD 6-33423494-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 19.90
- PolyPhen-2 0.09
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available