A15V (p.Ala15Val) variant of SYNGAP1 (Q96PV0)
A15V (p.Ala15Val) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs2537260854
- ClinGen CA363677113
- ClinVar RCV002462771
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available