P38P (p.Pro38Pro) variant of SYNGAP1 (Q96PV0)
P38P (p.Pro38Pro) in SYNGAP1 (Q96PV0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P38P (p.Pro38Pro) variant details
- p.Pro38Pro
- rs370803544
- gnomAD 6-33423523-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- AlphaMissense 0.18
- MetaLR 0.02
- MetaSVM -0.99
- CADD 2.89
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available