V144M (p.Val144Met) variant of SHANK2 (Q9UPX8)
V144M (p.Val144Met) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
V144M (p.Val144Met) variant details
- p.Val144Met
- ExAC rs782383078
- TOPMed rs782383078
- gnomAD rs782383078
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)