M16V (p.Met16Val) variant of SYNGAP1 (Q96PV0)
M16V (p.Met16Val) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M16V (p.Met16Val) variant details
- p.Met16Val
- gnomAD rs965774261
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available