S2R (p.Ser2Arg) variant of SYNGAP1 (Q96PV0)
S2R (p.Ser2Arg) in SYNGAP1 (Q96PV0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD 6-33420270-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available