V133I (p.Val133Ile) variant of SHANK2 (Q9UPX8)
V133I (p.Val133Ile) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, 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 0.51 / 1. The record also includes population frequency data.
V133I (p.Val133Ile) variant details
- p.Val133Ile
- TOPMed rs1463147374
- gnomAD rs1463147374
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 8.66
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)