A107D (p.Ala107Asp) variant of SHANK2 (Q9UPX8)
A107D (p.Ala107Asp) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
A107D (p.Ala107Asp) variant details
- p.Ala107Asp
- gnomAD rs201921126
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)