P42S (p.Pro42Ser) variant of SYNGAP1 (Q96PV0)
P42S (p.Pro42Ser) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- gnomAD 6-33423533-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- MetaLR 0.05
- MetaSVM -1.14
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available