P38L (p.Pro38Leu) variant of SYNGAP1 (Q96PV0)
P38L (p.Pro38Leu) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability, autosomal dominant 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs764259746
- ExAC rs764259746
- gnomAD rs764259746
- ClinGen CA3758382
- Conflicting interpretations
- not provided; Intellectual disability, autosomal dominant 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability, autosomal dominant 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)